Mutation analysis in F9 gene of 17 families with haemophilia B from Iran

被引：5

作者：

Enayat, MS

Karimi, M

Chana, G

Farjadian, S

Theophilus, BDM

Hill, FGH

机构：

[1] Birmingham Childrens Hosp NHS Trust, Dept Haematol, Mol Haemostasis Lab, Birmingham B4 6NH, W Midlands, England

[2] Shiraz Univ Med Sci, Sch Med, Haematol Res Ctr, Haemostasis & Thrombosis Unit, Shiraz, Iran

来源：

HAEMOPHILIA | 2004年 / 10卷 / 06期

关键词：

D O I：

10.1111/j.1365-2516.2004.01041.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequenced. Seven of the 15 mutations identified in these families were novel mutations. The mutations were authenticated in nine families as other affected members or heterozygous female carriers were available for verification.

引用

页码：751 / 755

页数：5

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