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Gabriel Tamagnini

Centra

20

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487

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Onset of X-linked sideroblastic anemia in the fourth decade

2004 Haematologica
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A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells

2002 Blood
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A new PKLR gene mutation in the R-type promoter region affects the gene transcription causing pyruvate kinase deficiency.

2000 British Journal of Haematology
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Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3.

2000 Blood
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Hb Vila Real [β36(C2)Pro→His]: A Newly Discovered High Oxygen Affinity Variant

2000 Hemoglobin
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PK-LR gene mutations in pyruvate kinase deficient Portuguese patients.

1999 British Journal of Haematology
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Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

1997 Blood
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Hb Lepore-Baltimore (δ68Leu-β84Thr) and Hb Lepore-Washington-Boston (δ87Gln-βIVS-II-8) in Central Portugal and Spanish Alta Extremadura

1997 Human Genetics
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Citations (31)
Hemoglobin Disorders in Macao

1997 Hemoglobin
- Maria Leticia Ribeiro
- Gabriel Tamagnini
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A variant of spectrin low-expression allele αLELYcarrying a hereditary elliptocytosis mutation in codon 28

1994 British Journal of Haematology
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Citations (32)