乙型血友病：点突变及短插入和缺失数据库，第五版，1994年
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.
作者信息
Giannelli F, Green P M, Sommer S S, Lillicrap D P, Ludwig M, Schwaab R, Reitsma P H, Goossens M, Yoshioka A, Brownlee G G
机构信息
Mayo Clinic, Rochester, MN 55905.
出版信息
Nucleic Acids Res. 1994 Sep;22(17):3534-46. doi: 10.1093/nar/22.17.3534.
Abstract
The fifth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of < 30bp) identified in haemophilia B patients. The 1,142 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on: factor IX activity, factor IX antigen in circulation, and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.
摘要
《乙型血友病数据库》第五版以易于查阅的形式列出了在乙型血友病患者中发现的因小变化（碱基替换以及短于30bp的插入和/或缺失）导致的所有已知的凝血因子IX突变。1142条患者记录按其突变的核苷酸编号排序。在已知的情况下，会给出以下详细信息：凝血因子IX活性、循环中的凝血因子IX抗原以及突变的来源。列出了已发表突变的参考文献，并指明了生成数据的实验室。
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本文引用的文献
1
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Nat Genet. 1993 Feb;3(2):175-9. doi: 10.1038/ng0293-175.
2
Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.凝血因子IX基因的种系突变：白种人与非白种人突变模式的比较。
Hum Mol Genet. 1993 Mar;2(3):293-8. doi: 10.1093/hmg/2.3.293.
3
Genetic basis and carrier detection of hemophilia B of Chinese origin.中国血友病B的遗传基础与携带者检测
Thromb Haemost. 1993 Mar 1;69(3):247-52.
4
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Methods Enzymol. 1993;222:143-69. doi: 10.1016/0076-6879(93)22011-4.
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A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.四个乙型血友病家庭中凝血因子IX基因3'非翻译区的突变。
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6
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10
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