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Título: Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia
Autor: Costa, Elísio
Cabeda, José
Vieira, Emília
Pinto, Rui
Pereira, Susana
Ferraz, Leonor
Santos, Rosário
Barbot, José
Palavras-chave: G6PD
Issue Date: 2000
Editora: The American Society of Hematology
Citação: Costa, Elísio; Cabeda, José; Vieira, Emília; Pinto, Rui; Pereira, Susana; Ferraz, Leonor; Santos, Rosário; Barbot, José (2000) - Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation associated with chronic nonspherocytic hemolytic anemia. Blood. ISSN 1528-0020. 95:4, p. 1499-1501
Resumo: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme abnormality. The clinical phenotype is variable but often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon 10, in a region that, at the protein level, is believed to be involved in dimerization. Here we describe a de novo mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps to exon 8. Mutant and normal alleles were found in both hematopoietic and buccal cells, indicating the presence of mosaicism. The available model of the protein predicts that this lesion lies in proximity to the dimer interface of the molecule. A possible mechanism to explain the severity of the defect is proposed.
ISSN: 1528-0020
Appears in Collections:DTDT - Artigos em Revistas Indexados ao ISI/Scopus

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