Giannelli F, Green P M, Sommer S S, Poon M C, Ludwig M, Schwaab R, Reitsma P H, Goossens M, Yoshioka A, Brownlee G G
Paediatric Research Unit, London, UK.
Nucleic Acids Res. 1996 Jan 1;24(1):103-18. doi: 10.1093/nar/24.1.103.
The sixth 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 <30 bp) identified in haemophilia B patients. The 1380 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.
《B型血友病数据库》第六版以易于查阅的形式列出了在B型血友病患者中发现的所有已知的因小变化(碱基替换以及小于30bp的短插入和/或缺失)导致的因子IX突变。1380条患者记录按其突变的核苷酸编号排序。已知的情况下,还给出了因子IX活性、循环中的因子IX抗原以及突变起源的详细信息。列出了已发表突变的参考文献,并注明了生成数据的实验室。