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Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype.

作者信息

Oldenburg J, Schröder J, Schmitt C, Brackmann H H, Schwaab R

出版信息

Thromb Haemost. 1998 Feb;79(2):452-3.

PMID:9493612
Abstract
摘要

相似文献

1
Small deletion/insertion mutations within poly-A runs of the factor VIII gene mitigate the severe haemophilia A phenotype.
Thromb Haemost. 1998 Feb;79(2):452-3.
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Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation. Mutations in brief no. 245. Online.对凝血因子VIII基因进行突变筛查，结果鉴定出三个新突变，其中一个是供体剪接突变。突变简讯第245号。在线发布。
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Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.血友病 A 和血友病 B 的分子遗传学研究进展：遗传检测在常规临床实践中的相关性。
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Genomics of bleeding disorders.出血性疾病的基因组学。
Haemophilia. 2014 May;20 Suppl 4(0 4):50-3. doi: 10.1111/hae.12424.
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Factor VIII inhibitors: risk factors and methods for prevention and immune modulation.凝血因子VIII抑制剂：危险因素及预防和免疫调节方法
Clin Rev Allergy Immunol. 2009 Oct;37(2):114-24. doi: 10.1007/s12016-009-8122-5.
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The hemostatic balance revisited through the lessons of mankind evolution.从人类进化的经验中重新审视止血平衡。
Intern Emerg Med. 2008 Mar;3(1):3-8. doi: 10.1007/s11739-008-0100-z. Epub 2008 Feb 19.
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Haemophilia A and haemophilia B: molecular insights.甲型血友病和乙型血友病：分子见解
Mol Pathol. 2002 Apr;55(2):127-44. doi: 10.1136/mp.55.2.127.
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Haemophilia A and haemophilia B: molecular insights.甲型血友病和乙型血友病：分子见解。
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