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Mild Beta Thalassemia Intermedia – Major Genetic Determinants in the Phenotype Severity
Ribeiro ML, Bento C
Hematologica 86, supl.1,164
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Population Genetics of Four PKLR Intragenic Polymorphisms in Portugal and São Tomé e Príncipe (Gulf of Guinea)
Manco L, Oliveira AL, Gomes C, Granjo A, Trovoada MJ, Ribeiro ML, Abade A, Amorim A
Human Biology 73: 467-474
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A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency
Manco L, Ribeiro ML, Máximo V, Almeida H, Costa A, Freitas O, Barbot J, Abade A, Tamagnini G
Br J Haematol 110(4):993-7
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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3
Ribeiro ML, Alloisio N, Almeida H, Gomes C, Texier P, Lemos C, Mimoso G, Morlé L, Beycabet F, Rudrigoz RC, Delaunay J, Tamagnini G
Blood 96(4):1602-4
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b-thalassemia intermedia resulting from compound heterozigosity for an IVSI-1 (G-A) and a silent 5´ UTR +33 (C-G) mutations
Bento MC, Ribeiro ML, Cunha E, Gonçalves P, Martin-Nuñez G, Tamagnini G
Haematologica. 2000 Apr;85(4):443-4
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Elliptocytosis in patients with C-Terminal domain mutations of protein 4.1 correlates with encoded mRNA levels, rather than with alterations in primary protein structure
Morinière M, Ribeiro ML, Dalla Venezia N, Deguillien M, Maillet P, Cynober T, Delhommeau F, Almeida H, Tamagnini G, Delaunay J, Baklouki F
Blood 95(5):1834-41
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Hb Vila Real [beta36(C2)Pro-->His]: a newly discovered high oxygen affinity variant
Bento MC, Ribeiro ML, Cunha E, Rebelo U, Granjo E, Granado C, Tamagnini GP
Hemoglobin 24(1):59-63
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Hemocromatose – Frequência das mutações C282Y e H63D numa amostra da população Portuguesa
MC Bento, ML Ribeiro, C Seabra, E Gonçalves, U Rebelo, G Caldas, I Soares, GP Tamagnini
Jornal Português de Gastrenterologia 7(3):152-5
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Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin
Amaral O, Lacerda L, Marcao A, Pinto E, Tamagnini G, Sá Miranda MC
Clin Genet, Jul;56(1):100-2
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PK-LR gene mutations in Pyruvate-Kinase deficient Portuguese patients
Manco L, Ribeiro ML, Almeida H, Freitas O, Costa A, Ferreira F, Abade A, Tamagnini G
Br J Haematol 105(3):591-5
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