Literature DB >> 16079115

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis.

Licínio Manco, Paula Gonçalves, Sandra Macedo-Ribeiro, Carlos Seabra, Paula Melo, Maria Letícia Ribeiro.   

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).

Entities:  

Mesh:

Substances:

Year:  2005        PMID: 16079115

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


  1 in total

1.  Antioxidant vitamins and glucose-6-phosphate dehydrogenase deficiency in full-term neonates.

Authors:  Khalid K Abdul-Razzak; Enaam M Almomany; Mohamad K Nusier; Ahmad D Obediat; Ahmad M Salim
Journal:  Ger Med Sci       Date:  2008-09-24
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.