Manco Licínio, Gonçalves Paula, Macedo-Ribeiro Sandra, Seabra Carlos, Melo Paula, Ribeiro Maria Letícia
Haematologica. 2005 Aug;90(8):1135-6.
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).
我们描述了与慢性溶血性贫血相关的葡萄糖-6-磷酸脱氢酶（G6PD）基因中的两个新错义突变：外显子10中的1205C→A突变预测在二聚体界面内多肽链的β-折叠M中有402Thr→Asn氨基酸变化（G6PD科万多洛博）；外显子12中的1366G→A突变预测在蛋白质表面的α-螺旋N中有456Asp→His氨基酸取代（G6PD菲盖拉达福什）。
Zotero 插件