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Glucose-6-phosphate Dehydrogenase Deficiency in Portugal: Biochemical and Mutational Profiles, Heterogeneity, and Haplotype Association

✍ Scribed by Maria-Odete Rodrigues; Ana Ponces Freire; Gisela Martins; Júlia Pereira; Maria-do-Carmo Martins; Carolino Monteiro

Book ID
115590223
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
91 KB
Volume
28
Category
Article
ISSN
1079-9796

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Molecular mutations of the giucose-Cphosphate dehydrogenase (G6PD) gene and clinical manifestations of neonatal jaundice in 112 male and 50 female Chinese neonates with G6PD deficiency were studied. In the 112 males, the nucleotide (nt) 1376 (G-T) mutation was the dominant type (50.0%), followed by