Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome

被引：24

作者：

Jones, M. L. ^{[1
,2
]}

Murden, S. L. ^{[2
]}

Bem, D. ^{[3
]}

Mundell, S. J. ^{[4
]}

Gissen, P. ^{[5
,6
]}

Daly, M. E. ^{[7
]}

Watson, S. P. ^{[3
]}

Mumford, A. D. ^{[2
]}

机构：

[1] Univ Bristol, Bristol Royal Infirm, Bristol Heart Inst, Bristol BS2 8HW, Avon, England

[2] Univ Bristol, Sch Cellular & Mol Med, Bristol BS2 8HW, Avon, England

[3] Univ Birmingham, Ctr Cardiovasc Sci, Coll Med & Dent Sci, Birmingham, W Midlands, England

[4] Univ Bristol, Sch Physiol & Pharmacol, Bristol BS2 8HW, Avon, England

[5] UCL, Inst Child Hlth, London, England

[6] UCL, MRC Lab Mol Cell Biol, London, England

[7] Univ Sheffield, Dept Cardiovasc Sci, Sheffield, S Yorkshire, England

来源：

JOURNAL OF THROMBOSIS AND HAEMOSTASIS | 2012年 / 10卷 / 02期

基金：

英国惠康基金;

关键词：

D O I：

10.1111/j.1538-7836.2011.04569.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：306 / 309

页数：4

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