Splice junction mutations in factor IX gene resulting in severe hemophilia B.
作者信息
Chen S H, Zhang M, Thompson A R, Bray G L, Scott C R
机构信息
Department of Pediatrics, University of Washington, Seattle.
出版信息
Nucleic Acids Res. 1991 Mar 11;19(5):1172. doi: 10.1093/nar/19.5.1172.
Abstract
摘要
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Splice junction mutations in factor IX gene resulting in severe hemophilia B.凝血因子IX基因的剪接连接突变导致严重的B型血友病。
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Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene.波兰血友病B的分子分析：凝血因子IX基因的12种新突变
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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.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。
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本文引用的文献
1
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).人凝血因子IX（抗血友病因子B）基因的核苷酸序列。
Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.
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