错义突变
外显子
溶血
突变
葡萄糖-6-磷酸脱氢酶
溶血性贫血
氨基酸取代
脱氢酶
点突变
生物化学
基因
化学
分子生物学
生物
遗传学
酶
免疫学
作者
Licínio Manco,Paula Gonçalves,Sandra Macedo‐Ribeiro,Carlos Seabra,Paula Melo,Letícia Ribeiro
出处
期刊:PubMed
日期:2005-08-01
卷期号:90 (8): 1135-6
被引量:6
摘要
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).
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