Artigo em revista |
- Bárbara Marques; Catarina Nora; Daniela Coelho; Patrícia Martinho; Teresa Fidalgo; Marília Gomes; Letícia Ribeiro; Catarina
Geraldes; José Pedro Carda. "The Challenging Management of Acute Thrombotic Microangiopathy in Pregnancy". Acta Haematologica
(2023): https://doi.org/10.1159/000527553.
10.1159/000527553
- Jorge, Joana; Gonçalves, Ana
Cristina; Cortesão, Emília; Pires, Ana
Cláudia; Alves, Raquel; Geraldes, Catarina; Pereira, Amélia; et al. "Can peripheral blood provide good DNA methylation
biomarkers in myelodysplastic syndrome?". Journal of Molecular and Clinical Medicine 4 1 (2021): 39. http://dx.doi.org/10.31083/j.jmcm.2021.01.015.
10.31083/j.jmcm.2021.01.015
- Manco L; Bento C; Relvas L; Cunha E; Pereira J; Moreira V; Alvarez M; Maia T; Ribeiro ML. "Multi-Locus Models to Address Hb
F Variability in Portuguese ß-Thalassemia Carriers.". Hemoglobin (2020): http://europepmc.org/abstract/med/32319326.
10.1080/03630269.2020.1753766
- Oliveira M; Laranjeira P; Fortuna M; Bártolo R; Ribeiro A; Santos M; Cortesão E; et al. "CD43 and CD49d from the B-Cell Chronic
Lymphoproliferative Disorders Diagnostic Panel Are Useful to Detect Erythroid Dysplasia.". Cytometry. Part B, Clinical
cytometry (2019): http://europepmc.org/abstract/med/31157955.
10.1002/cyto.b.21792
- Simões C; Silva I; Carvalho A; Silva S; Santos S; Marques G; Ribeiro A; et al. "Quantification and phenotypic characterization
of peripheral blood Vd1¿+¿T cells in chronic lymphocytic leukemia and monoclonal B cell lymphocytosis.". Cytometry. Part
B, Clinical cytometry (2018): http://europepmc.org/abstract/med/30334339.
10.1002/cyto.b.21645
- Manco L; Silva C; Fidalgo T; Martinho P; Sarmento AB; Ribeiro ML. "Venous thromboembolism risk associated with ABO, F11 and
FGG loci.". Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis (2018): http://europepmc.org/abstract/med/29995659.
10.1097/mbc.0000000000000753
- Ferreira IJMCF; Sousa F; Vasco EM; Areia ALFA; Moura JPAS; Carda J; Ribeiro L. "Severe immune thrombocytopenia in pregnancy
treated with Eltrombopag - A case report.". Journal of gynecology obstetrics and human reproduction (2018): http://europepmc.org/abstract/med/29981476.
10.1016/j.jogoh.2018.06.010
- Barbosa Ribeiro A; Coucelo M; Tenreiro R; Simões AT; Marques G; Ribeiro L; Cortesão E; Sarmento-Ribeiro AB. "Clonal shifts
in MDS - from SF3B1 to EZH2.". Leukemia & lymphoma (2018): http://europepmc.org/abstract/med/29616853.
10.1080/10428194.2018.1443452
- Iolascon A; Andolfo I; Barcellini W; Corcione F; Garçon L; De Franceschi L; Pignata C; et al. "Recommendations regarding splenectomy
in hereditary hemolytic anemias.". Haematologica (2017): http://europepmc.org/abstract/med/28550188.
10.3324/haematol.2016.161166
- Fidalgo, T; Martinho, P; Pinto, CS; Oliveira, AC; Salvado, R; Borràs, N; Coucelo, M; et al. "Combined study of ADAMTS13 and
complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing". (2017): http://hdl.handle.net/10400.4/2179.
10.1002/rth2.12016
- Kager L; Bruce LJ; Zeitlhofer P; Flatt JF; Maia TM; Ribeiro ML; Fahrner B; et al. "Band 3 nullVIENNA , a novel
homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.".
Pediatric blood & cancer (2016): http://europepmc.org/abstract/med/27718309.
10.1002/pbc.26227
- Geraldes C; Gonçalves AC; Cortesão E; Pereira MI; Roque A; Paiva A; Ribeiro L; Nascimento-Costa JM; Sarmento-Ribeiro AB. "Aberrant
p15, p16, p53, and DAPK Gene Methylation in Myelomagenesis: Clinical and Prognostic Implications.". Clinical lymphoma,
myeloma & leukemia (2016): http://europepmc.org/abstract/med/27622827.
10.1016/j.clml.2016.08.016
- Manco L; Bento C; Victor BL; Pereira J; Relvas L; Brito RM; Seabra C; Maia TM; Ribeiro ML. "Hereditary nonspherocytic hemolytic
anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and
molecular study.". Blood cells, molecules & diseases (2016): http://europepmc.org/abstract/med/27519939.
10.1016/j.bcmd.2016.06.002
- Fidalgo T; Salvado R; Corrales I; Pinto SC; Borràs N; Oliveira A; Martinho P; et al. "Genotype-phenotype correlation in a
cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.". Thrombosis and haemostasis
(2016): http://europepmc.org/abstract/med/26988807.
10.1160/th15-07-0604
- Pereira, Janet; Bento, Celeste; Manco, Licinio; Gonzalez, Ataulfo; Vagace, Jose; Ribeiro, Maria Letícia. "Congenital dyserythropoietic
anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency". (2016): http://hdl.handle.net/10316/45869.
- Sousa, Rosa; Gonçalves, Cristina; Guerra, Isabel Couto; Costa, Emília; Fernandes, Ana; do Bom Sucesso, Maria; Azevedo, Joana;
et al. "Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesis". Orphanet journal
of rare diseases (2016): http://hdl.handle.net/10316/45877.
10.1186/s13023-016-0485-0
- Cortesão E; Tenreiro R; Ramos S; Pereira M; César P; Carda JP; Gomes M; et al. "[Serum Erythropoietin as Prognostic Marker
in Myelodysplastic Syndromes].". Acta medica portuguesa (2015): http://europepmc.org/abstract/med/26849756.
- Toste S; Relvas L; Pinto C; Bento C; Abade A; Ribeiro ML; Manco L. "Intragenic haplotype analysis of common HFE mutations
in the Portuguese population.". Journal of genetics (2015): http://europepmc.org/abstract/med/26174684.
10.1007/s12041-015-0510-4
- Pereira C; Relvas L; Bento C; Abade A; Ribeiro ML; Manco L. "Polymorphic variations influencing fetal hemoglobin levels: association
study in beta-thalassemia carriers and in normal individuals of Portuguese origin.". Blood cells, molecules & diseases
(2015): http://europepmc.org/abstract/med/25842369.
10.1016/j.bcmd.2015.02.001
- Fidalgo, T; Martinho, P; Salvado, R; Manco, L; Oliveira, AC; Pinto, CS; Gonçalves, E; et al. "Familial thrombotic risk based
on the genetic background of Protein C Deficiency in a Portuguese Study". (2015): http://hdl.handle.net/10400.4/2184.
10.1111/ejh.12488
- Vagace, Jose M.; Peças, Antonio; Groiss, Jorge; Bento, Celeste; Ribeiro, Maria Leticia; Gervasini, Guillermo. "Clinical relevance
of erythrocyte ferritin in microcytic anemias". (2015): http://hdl.handle.net/10316/45834.
- Satchwell TJ; Hawley BR; Bell AJ; Ribeiro ML; Toye AM. "The cytoskeletal binding domain of band 3 is required for multiprotein
complex formation and retention during erythropoiesis.". Haematologica (2014): http://europepmc.org/abstract/med/25344524.
10.3324/haematol.2014.114538
- Machado P; Vaz T; Nogueira F; Rodrigues J; Manco L; Ribeiro L; Bergstrom E; et al. "Quantitative proteomics for the analysis
of Plasmodium falciparum and its red blood cell host - a preliminary study". Malaria journal (2014): http://europepmc.org/abstract/PMC/PMC4179439.
- Coucelo, M; Caetano, G; Sevivas, T; Almeida Santos, S; Fidalgo, T; Bento, C; Fortuna, M; et al. "JAK2V617F allele burden is
associated with thrombotic mechanisms activation in polycythemia vera and essential thrombocythemia patients". (2014): http://hdl.handle.net/10400.4/2183.
10.1007/s12185-013-1475-9
- Spinola, Ana Isabel Franco; Guilherme, Raquel Ferreira; Bento, Celeste; Relvas, Luís; Oliveira, Ana Catarina; Neves, José
Farela; Ribeiro, Maria Letícia. "Cianose Central Neonatal: nem sempre cardíaca, nem sempre pulmonar". (2014): https://pjp.spp.pt//article/view/3690.
10.25754/pjp.2014.3690
- Bento, Celeste; Percy, Melanie J.; Gardie, Betty; Maia, Tabita Magalhães; van Wijk, Richard; Perrotta, Silverio; Della Ragione,
Fulvio; et al. "Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases". (2014): http://hdl.handle.net/10316/45644.
- Bento C; Percy MJ; Gardie B; Maia TM; van Wijk R; Perrotta S; Della Ragione F; et al. "Genetic basis of congenital erythrocytosis:
mutation update and online databases.". Human mutation (2013): http://europepmc.org/abstract/med/24115288.
10.1002/humu.22448
- Cunha E; Bento C; Oliveira A; Relvas L; Neves J; Gameiro M; Barros C; et al. "Hb Plasencia [a125(H8)Leu¿Arg (a2)] is a frequent
cause of a+-thalassemia in the Portuguese population.". Hemoglobin (2013): http://europepmc.org/abstract/med/23368878.
10.3109/03630269.2013.763822
- Bento, Celeste; Almeida, Helena; Maia, Tabita M.; Relvas, Luís; Oliveira, Ana C.; Rossi, Cédric; Girodon, François; et al.
"Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half
of the cases (Where is/are the missing gene(s)?)". (2013): http://hdl.handle.net/10316/45542.
- Machado P; Manco L; Gomes C; Mendes C; Fernandes N; Salomé G; Sitoe L; et al. "Pyruvate kinase deficiency in sub-Saharan Africa:
identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.". PloS one (2012):
http://europepmc.org/abstract/med/23082140.
10.1371/journal.pone.0047071
- Bento C; Maia TM; Milosevic JD; Carreira IM; Kralovics R; Ribeiro ML. "ß Thalassemia major due to acquired uniparental disomy
in a previously healthy adolescent.". Haematologica (2012): http://europepmc.org/abstract/med/22875618.
10.3324/haematol.2012.064097
- Bento C; Oliveira AC; Neves J; Gameiro M; Cunha E; Coucelo M; Costa RM; et al. "Hb Iberia [a104(G11)Cys ¿ Arg,TGC>CGC (a2)
(HBA2:c.313T>C)], a new a-thalassemic hemoglobin variant found in the Iberian Peninsula: report of six cases.". Hemoglobin
(2012): http://europepmc.org/abstract/med/23181747.
10.3109/03630269.2012.742911
- Millimono TS; Loua KM; Rath SL; Relvas L; Bento C; Diakite M; Jarvis M; et al. "High prevalence of hemoglobin disorders and
glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa).". Hemoglobin (2011): http://europepmc.org/abstract/med/21929367.
10.3109/03630269.2011.600491
- Silva Pinto C; Fidalgo T; Salvado R; Marques D; Gonçalves E; Martinho P; Markoff A; Martins N; Letícia Ribeiro M. "Molecular
diagnosis of haemophilia A at Centro Hospitalar de Coimbra in Portugal: study of 103 families--15 new mutations.". Haemophilia
: the official journal of the World Federation of Hemophilia (2011): http://europepmc.org/abstract/med/21645180.
10.1111/j.1365-2516.2011.02570.x
- Manco L; Pereira J; Relvas L; Rebelo U; Crisóstomo AI; Bento C; Ribeiro ML; et al. "Chronic hemolytic anemia is associated
with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman.". Blood cells, molecules & diseases
(2011): http://europepmc.org/abstract/med/21397531.
10.1016/j.bcmd.2011.02.001
- Albuquerque D; Manco L; Loua KM; Arez AP; Trovoada Mde J; Relvas L; Millimono TS; et al. "SLC40A1 Q248H allele frequencies
and associated SLC40A1 haplotypes in three West African population samples.". Annals of human biology (2011): http://europepmc.org/abstract/med/21231898.
10.3109/03014460.2010.541496
- Morinière M; Delhommeau F; Calender A; Ribeiro L; Delaunay J; Baklouti F. "Nonsense-mediated mRNA decay (NMD) blockage promotes
nonsense mRNA stabilization in protein 4.1R deficient cells carrying the 4.1R Coimbra variant of hereditary elliptocytosis.".
Blood cells, molecules & diseases (2010): http://europepmc.org/abstract/med/20863723.
10.1016/j.bcmd.2010.08.011
- Machado P; Pereira R; Rocha AM; Manco L; Fernandes N; Miranda J; Ribeiro L; et al. "Malaria: looking for selection signatures
in the human PKLR gene region.". British journal of haematology (2010): http://europepmc.org/abstract/med/20377593.
10.1111/j.1365-2141.2010.08165.x
- Alves J; Machado P; Silva J; Gonçalves N; Ribeiro L; Faustino P; do Rosário VE; et al. "Analysis of malaria associated genetic
traits in Cabo Verde, a melting pot of European and sub Saharan settlers.". Blood cells, molecules & diseases (2009):
http://europepmc.org/abstract/med/19837619.
10.1016/j.bcmd.2009.09.008
- Manco L; Vagace JM; Relvas L; Rebelo U; Bento C; Villegas A; Letícia Ribeiro M. "Chronic haemolytic anaemia because of pyruvate
kinase (PK) deficiency in a child heterozygous for haemoglobin S and no clinical features of sickle cell disease.". European
journal of haematology (2009): http://europepmc.org/abstract/med/19758413.
10.1111/j.1600-0609.2009.01353.x
- Pereira J; Rodrigues MJ; Chabert T; Ribeiro ML; Manco L; Trovoada MJ. "Novel human pathological mutations. Gene symbol: RHD.
Disease: reduced expression (weak D).". Human genetics (2009): http://europepmc.org/abstract/med/19320009.
- Coutinho R; Bento C; Almeida H; Cunha E; Manco L; Ferreira F; Ribeiro ML. "Complex inheritance of chronic haemolytic anaemia.".
British journal of haematology (2008): http://europepmc.org/abstract/med/19036089.
10.1111/j.1365-2141.2008.07479.x
- Manco L; Relvas L; Rebelo U; Vidán J; Ribeiro ML. "Gene symbol: PKLR. Disease: Pyruvate kinase deficiency.". Human genetics
(2008): http://europepmc.org/abstract/med/18846674.
- Manco L; Botigué LR; Ribeiro ML; Abade A. "G6PD deficient alleles and haplotype analysis of human G6PD locus in São Tomé e
Príncipe (West Africa).". Human biology (2007): http://europepmc.org/abstract/med/18494377.
10.1353/hub.2008.0013
- Manco L; Gonçalves P; Antunes P; Maduro F; Abade A; Ribeiro ML. "Mutations and haplotype diversity in 70 Portuguese G6PD-deficient
individuals: an overview on the origin and evolution of mutated alleles.". Haematologica (2007): http://europepmc.org/abstract/med/18056001.
10.3324/haematol.11670
- Manco L; Ribeiro ML. "Gene symbol: NT5C3. Disease: pyrimidine 5'-nucleotidase (P5'N) deficiency.". Human genetics (2006):
http://europepmc.org/abstract/med/17128459.
- Manco L; Relvas L; Silva Pinto C; Pereira J; Almeida AB; Ribeiro ML. "Molecular characterization of five Portuguese patients
with pyrimidine 5'-nucleotidase deficient hemolytic anemia showing three new P5'N-I mutations.". Haematologica (2006):
http://europepmc.org/abstract/med/16461318.
- Manco, Licínio; Gonçalves, Paula; Macedo-Ribeiro, Sandra; Seabra, Carlos; Melo, Paula; Ribeiro, Maria Letícia. "Two new glucose-6-phosphate
dehydrogenase mutations causing chronic hemolysis". (2005): http://hdl.handle.net/10316/13584.
- Bruce LJ; Beckmann R; Ribeiro ML; Peters LL; Chasis JA; Delaunay J; Mohandas N; Anstee DJ; Tanner MJ. "A band 3-based macrocomplex
of integral and peripheral proteins in the RBC membrane.". Blood (2003): http://europepmc.org/abstract/med/12531814.
10.1182/blood-2002-09-2824
- Delhommeau F; Vasseur-Godbillon C; Leclerc P; Schischmanoff PO; Croisille L; Rince P; Morinière M; et al. "A splicing alteration
of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.". Blood (2002):
http://europepmc.org/abstract/med/12239178.
10.1182/blood.v100.7.2629
- Reliene R; Mariani M; Zanella A; Reinhart WH; Ribeiro ML; del Giudice EM; Perrotta S; et al. "Splenectomy prolongs in vivo
survival of erythrocytes differently in spectrin/ankyrin- and band 3-deficient hereditary spherocytosis.". Blood (2002):
http://europepmc.org/abstract/med/12200387.
- Manco L; Bento C; Ribeiro ML; Tamagnini G. "Consequences at mRNA level of the PKLR gene splicing mutations IVS10(+1)G-->C
and IVS8(+2)T-->G causing pyruvate kinase deficiency.". British journal of haematology (2002): http://europepmc.org/abstract/med/12181074.
10.1046/j.0007-1048.2002.03665.x
- Ribeiro ML. "A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase
deficiency". Br J Haematol 110 4 (2000): 993-997.
Acesso aberto • Publicado
- Ribeiro ML. "¿-thalassemia intermedia resulting from compound heterozigosity for an IVSI-1 (G-A) and a silent 5' UTR +33
(C-G) mutations". Haematologica 85 4 (2000): 443-444. https://pubmed.ncbi.nlm.nih.gov/10756381/.
Publicado
- Ribeiro ML. "Elliptocytosis in patients with C-terminal domain mutations of protein 4.1 correlates with encoded messenger
RNA levels rather than with alterations in primary protein structure". Blood 1 95 (2000): 1834-1841. https://pubmed.ncbi.nlm.nih.gov/10688845/.
Publicado
- Bento, M. C.; Ribeiro, M. L.; Cunha, E.; Rebelo, U.; Granjo, E.; Granado, C.; Tamagnini, G. P.. "Hb Vila Real [ß36(C2)Pro¿His]:
A Newly Discovered High Oxygen Affinity Variant". Hemoglobin 24 1 (2000): 59-63. http://dx.doi.org/10.3109/03630260009002275.
10.3109/03630260009002275
- Ribeiro, ML; Alliosio, N; Almeida, H; Gomes, C; Texier, P; Lemos, C; Mimoso, G; et al. "Severe hereditary spherocytosis and
distal renal tubular acidosis associated with the total absence of band 3". (2000): http://hdl.handle.net/10400.4/1407.
- Ribeiro ML. "PK-LR gene mutations in pyruvate kinase deficient Portuguese patients". Br J Haematol . 1999 Jun;105(3):591-5.
doi: 10.1046/j.1365-2141.1999.01387 105 3 (1999): 591-596. https://pubmed.ncbi.nlm.nih.gov/10354117/.
Publicado
- Ribeiro ML. "Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis". Blood 90 1 (1997):
414-420. https://pubmed.ncbi.nlm.nih.gov/9207478/.
Acesso aberto • Publicado
- Ribeiro, M. L.; Cunha, E.; Gonçalves, P.; Núñez, G. Martin; Galan, M. A. Fernandez; Tamagnini, G. P.; Smetanina, N. S.; Gu,
L. H.; Huisman, T. H. J.. "Hb Lepore-Baltimore (d 68Leu -ß 84Thr ) and Hb Lepore-Washington-Boston (d 87Gln -ß IVS-II-8 )
in Central Portugal and Spanish Alta Extremadura". Human Genetics 99 5 (1997): 669-673. http://dx.doi.org/10.1007/s004390050426.
Publicado • 10.1007/s004390050426
- Ribeiro, M. L.; Gonplves, P.; Cunha, E.; Bentol, C.; Almeida, H.; Pereira, J.; Núñez, G. Martin; Tamagnini, G. P.. "Genetic
Heterogeneity of ß-Thalassemia in Populations of the Iberian Peninsula". Hemoglobin 21 3 (1997): 261-269. http://dx.doi.org/10.3109/03630269708997387.
Publicado • 10.3109/03630269708997387
- Ribeiro, M. L.; Tamagnini, G. P.. "Hemoglobin Disorders in Macao". Hemoglobin 21 3 (1997): 271-279. http://dx.doi.org/10.3109/03630269708997388.
Publicado • 10.3109/03630269708997388
- Ribeiro ML. "A variant of spectrin low-expression allele alpha LELY carrying a hereditary elliptocytosis mutation in codon
28". Br J Haematol . 1994 Nov;88(3):534-40 88 3 (1994): 534-540. https://pubmed.ncbi.nlm.nih.gov/7819065/.
Publicado
- Ribeiro ML. "Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with beta-thalassaemia
due to a homozygosity for the IVS-I-6 (T-->C) mutation". Br J Haematol . 1994 Apr;86(4):824-30 86 4 (1994): 824-830.
https://pubmed.ncbi.nlm.nih.gov/7522523/.
Publicado
- Baysal, Erol; Ribeiro, Leticia S.; Huisman, Titus H.J.. "Binding of Nuclear Factors to the Proximal and Distal CACCC Motifs
of the Beta-Globin Gene Promoter: Implications for the -101 (C¿T) ‘Silent’ Beta-Thalassemia Mutation". Acta Haematologica
91 1 (1994): 16-20. http://dx.doi.org/10.1159/000204237.
10.1159/000204237
- Ribeiro ML. "Incorrect genetic counselling of an Italian couple with beta-Thalassemia due to incomplete testing". Am J
Hum Genet 52 4 (1993): 842-843. https://pubmed.ncbi.nlm.nih.gov/8460650/.
Publicado
- Tamagnini, G. P.; Gonçalves, P.; Ribeiro, M. L. S.; Kaeda, J.; Kutlar, F.; Baysal, E.; Huisman, T. H. J.. "ß-Thalassehia Mutations
in the Portuguese; High Frequencies of Two Alleles in Restricted Populations". Hemoglobin 17 1 (1993): 31-40. http://dx.doi.org/10.3109/03630269308998883.
Publicado • 10.3109/03630269308998883
- C¿r¿k, M.Akif; Y¿regir, G¿nesT.; Asadov, ChingisD.; Dadasova, Tamara; Gu, Li-Hao; Baysal, Erol; Gu, Yuan-Chao; Ribeiro, M.LeticiaS.;
Huisman, TitusH.J.. "Molecular characterization of ?-thalassemia in Azerbaijan". Human Genetics 90 4 (1992): http://dx.doi.org/10.1007/bf00220470.
Publicado • 10.1007/bf00220470
- Ribeiro ML. "A novel beta zero-thalassaemia mutation (codon 15, TGG----TGA) is prevalent in a population of central Portugal".
Br J Haematol 80 4 (1992): 567-568. https://pubmed.ncbi.nlm.nih.gov/1581247/.
Publicado
- ¿ner, Cihan; Dimovski, AleksandarJ.; Olivieri, NancyF.; Schiliro, Gino; Codrington, JohnF.; Fattoum, Sladdehine; Adekile,
AdekunleD.; et al. "Bs Haplotypes in various world populations". Human Genetics 89 1 (1992): 99-104. http://dx.doi.org/10.1007/bf00207052.
10.1007/bf00207052
- Ribeiro ML. "Dominant beta-thalassaemia trait in a Portuguese family is caused by a deletion of (G)TGGCTGGTGT(G) and an insertion
of (G)GCAG(G) in codons 134, 135, 136 and 137 of the beta-globin gene". Br J Haematol . 1991 Oct;79(2):306-10 79 2
(1991): 306-310. https://pubmed.ncbi.nlm.nih.gov/1659862/.
Publicado
- Tamagnini, G. P.; Ribeiro, M. L.; Valente, V.; Ramachandran, M.; Wilson, J. B.; Baysal, E.; Gu, L-H.; Huisman, T. H. J.. "HB
Coimbra or a2ß299(Gl)ASP¿GLU, A Newly Discovered High Oxygen Affinity Variant". Hemoglobin 15 6 (1991): 487-496. http://dx.doi.org/10.3109/03630269109027896.
10.3109/03630269109027896
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