因子IX催化结构域中的一种新型突变（缬氨酸373突变为谷氨酸），导致一名法国南部患者出现中度/重度B型血友病。 - Suppr | 超能文献

A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

作者信息

Aguilar-Martinez P, Romey M C, Gris J C, Schved J F, Demaille J, Claustres M

机构信息

Laboratoire de Biochimie Génétique, INSERM U249/CNRS UPR 9008, Montpellier, France.

出版信息

Hum Mutat. 1994;3(2):156-8. doi: 10.1002/humu.1380030211.

DOI:10.1002/humu.1380030211

Abstract

摘要

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Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.B型血友病（第六版）：点突变及短插入和缺失数据库

Nucleic Acids Res. 1996 Jan 1;24(1):103-18. doi: 10.1093/nar/24.1.103.

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Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications.导致乙型血友病的凝血因子IX基因突变：单链构象多态性筛查与系统DNA测序及诊断应用的比较

Hum Genet. 1994 Sep;94(3):287-90. doi: 10.1007/BF00208285.