Molecular characterization of factor IX gene mutations in 53 patients with haemophilia B in India

被引：0

作者：

Jayandharan, GR

Shaji, RV

Baidya, S

Nair, SC

Chandy, M

Srivastava, A ^{[1
]}

机构：

[1] Christian Med Coll & Hosp, Dept Hematol, Vellore 632004, Tamil Nadu, India

[2] Christian Med Coll & Hosp, Dept Clin Pathol, Vellore 632004, Tamil Nadu, India

来源：

THROMBOSIS AND HAEMOSTASIS | 2005年 / 94卷 / 04期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：883 / 886

页数：4

共 17 条

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[4] Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion [J].

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[5] Evaluation of denaturing high-performance liquid chromatography (DHPLC) in the screening of mutations in hemophilia B patients [J].

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[6] A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis [J].

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[7] Novel missense mutations in two patients with factor XI deficiency (Val271Leu and Tyr351Ser) and one patient with combined factor XI and factor IX deficiency (Phe349Val) [J].

Jayandharan, G ;

Shaji, RV ;

Nair, SC ;

Chandy, M ;

Srivastava, A .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2005, 3 (04) :808-811

[8] Identification of factor IX gene defects using a multiplex PCR and CSGE strategy - a first report [J].

Jayandharan, G ;

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Srivastava, A .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2003, 1 (09) :2051-2054

[9]

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