甲型血友病：凝血因子VIII基因核苷酸替换、缺失、插入及重排数据库，第二版
Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.
作者信息
Tuddenham E G, Schwaab R, Seehafer J, Millar D S, Gitschier J, Higuchi M, Bidichandani S, Connor J M, Hoyer L W, Yoshioka A
机构信息
Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London.
出版信息
Nucleic Acids Res. 1994 Nov 11;22(22):4851-68. doi: 10.1093/nar/22.22.4851.
Abstract
A large number of different mutations in the factor VIII (F8) gene have been identified as a cause of haemophilia A. This compilation lists known single base-pair substitutions, deletions and insertions in the F8 gene and reviews the status of the inversional events which account for a substantial proportion of mutations causing severe haemophilia A.
摘要
大量不同的凝血因子VIII（F8）基因突变已被确定为甲型血友病的病因。本汇编列出了F8基因中已知的单碱基对替换、缺失和插入情况，并综述了倒位事件的状况，这些倒位事件在导致严重甲型血友病的突变中占相当大的比例。
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本文引用的文献
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2
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Hum Mol Genet. 1993 Jan;2(1):11-7. doi: 10.1093/hmg/2.1.11.
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Mutations in haemophilia A.甲型血友病中的突变
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