Haemophilia B: database of point mutations and short additions and deletions - eighth edition

被引:135
作者
Giannelli, F
Green, PM
Sommer, SS
Poon, MC
Ludwig, M
Schwaab, A
Reitsma, PH
Goossens, M
Yoshioka, A
Figueiredo, MS
Brownlee, GG
机构
[1] Paediat Res Unit, London SE1 9RT, England
[2] City Hope Natl Med Ctr, Div Human Genet, Duarte, CA 91010 USA
[3] Univ Calgary, Foothills Hosp, Div Hematol & Hematol Malignancies, Calgary, AB T2N 1N4, Canada
[4] Univ Bonn, Inst Expt Haematol & Blood Transfus, D-5300 Bonn, Germany
[5] Inst Clin Biochem, D-5300 Bonn 1, Germany
[6] Univ Amsterdam, Acad Med Ctr, Lab Expt Internal Med, NL-1105 AZ Amsterdam, Netherlands
[7] Natl Inst Hlth & Med Res, F-94010 Creteil, France
[8] Nara Med Coll, Dept Pediat, Nara, Japan
[9] Lab Fleury, Mol Biol Sect, BR-01333011 Sao Paulo, Brazil
[10] Univ Oxford, Sir William Dunn Sch Pathol, Oxford OX1 3RE, England
关键词
D O I
10.1093/nar/26.1.265
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
The eighth edition of the haemophilia B database (http://www.umds.ac.uk/molgen/haemBdataba.htm) lists in an 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 1713 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, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.
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收藏
页码:265 / 268
页数:4
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