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

被引：0

作者：

Manco, Licinio ^{[1
,2
]}

Goncalves, Paula ^{[1
]}

Macedo-Ribeiro, Sandra ^{[3
]}

Seabra, Carlos ^{[4
]}

Melo, Paula ^{[5
]}

Ribeiro, Maria Leticia ^{[1
]}

机构：

[1] Ctr Hosp Coimbra, Unidade Hematol Mol, Coimbra, Portugal

[2] Univ Coimbra, Dept Antropol, Coimbra, Portugal

[3] Univ Coimbra, Ctr Neurociencias & Biol Celular, Coimbra, Portugal

[4] Hosp Infante D Pedro, Aveiro, Portugal

[5] Hosp Dist Figueira da Foz, Lab Patol Clin, Figueira Da Foz, Portugal

来源：

HAEMATOLOGICA | 2005年 / 90卷 / 08期

关键词：

G6PD deficiency; Portugal; G6PD class I mutations; dimer interface; G6PD structure and amino acid conservation;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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 beta-sheet M of the polypeptide chain, within the dimer interface (G6PD Covao do Lobo); mutation 1366G -> A in exon 12 predicts the amino acid substitution 456Asp -> His in the alpha-helix N, at the protein surface (G6PD Figueira da Foz).

引用

页码：1135 / 1136

页数：2

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