Clinical utility gene card for: haemophilia B.
作者信息
Jenkins Peter Vincent, Keenan Catriona, Keeney Steve, Cumming Tony, O'Donnell James S
机构信息
National Centre for Hereditary Coagulation Disorders, St James's Hospital, Dublin, Ireland.
出版信息
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.268. Epub 2012 Jan 25.
Abstract
摘要
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A study of variations in the reported haemophilia B prevalence around the world.一项关于全球报道的乙型血友病患病率变化的研究。
Haemophilia. 2012 May;18(3):e91-4. doi: 10.1111/j.1365-2516.2011.02588.x. Epub 2011 Jun 7.
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Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.B型血友病中缺失携带者的鉴定：定量实时聚合酶链反应或多重连接探针扩增。
Transl Res. 2009 Mar;153(3):114-7. doi: 10.1016/j.trsl.2008.12.006. Epub 2009 Jan 27.
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Preimplantation genetic diagnosis of haemophilia.血友病的植入前基因诊断
Br J Haematol. 2009 Feb;144(3):303-7. doi: 10.1111/j.1365-2141.2008.07391.x. Epub 2008 Nov 22.
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The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia.英国血友病分子基因检测国家外部质量评估计划（UK NEQAS）
Thromb Haemost. 2006 Nov;96(5):597-601.
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Bleeding in carriers of hemophilia.血友病携带者的出血情况。
Blood. 2006 Jul 1;108(1):52-6. doi: 10.1182/blood-2005-09-3879. Epub 2006 Mar 21.
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The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.B型血友病的分子分析：英国血友病中心医生组织血友病遗传学实验室网络指南
Haemophilia. 2005 Jul;11(4):398-404. doi: 10.1111/j.1365-2516.2005.01112.x.
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Denaturing HPLC procedure for factor IX gene scanning.用于因子IX基因扫描的变性高效液相色谱法
Clin Chem. 2003 May;49(5):815-8. doi: 10.1373/49.5.815.
8
Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.通过一种简单且灵敏的15小时程序进行凝血因子IX基因测序用于B型血友病诊断：鉴定两个新突变
Br J Haematol. 2000 Nov;111(2):549-51. doi: 10.1046/j.1365-2141.2000.02389.x.
9
A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.一种使用构象敏感凝胶电泳检测乙型血友病突变的快速方法。
Br J Haematol. 1999 Mar;104(4):915-8. doi: 10.1046/j.1365-2141.1999.01274.x.
10
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.莱顿B型血友病：一种青春期后病情会改善的X连锁遗传性疾病。
N Engl J Med. 1982 Apr 1;306(13):788-90. doi: 10.1056/NEJM198204013061306.
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