title: Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.
abstract: We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covão do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein surface (G6PD Figueira da Foz).
authors.forename: Licínio
authors.initials: L
authors.lastname: Manco
authors.forename: Paula
authors.initials: P
authors.lastname: Gonçalves
authors.forename: Sandra
authors.initials: S
authors.lastname: Macedo-Ribeiro
authors.forename: Carlos
authors.initials: C
authors.lastname: Seabra
authors.forename: Paula
authors.initials: P
authors.lastname: Melo
authors.forename: Maria Letícia
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood / Q000235:genetics*; D005091:Exons; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D011487:Protein Conformation
chemical_list: D005954:Glucosephosphate Dehydrogenase