Haemophilia B (sixth edition): A database of point mutations and short additions and deletions

被引:54
作者
Giannelli, F
Green, PM
Sommer, SS
Poon, MC
Ludwig, M
Schwaab, R
Reitsma, PH
Goossens, M
Yoshioka, A
Brownlee, GG
机构
[1] PAEDIAT RES UNIT, LONDON SE1 9RT, ENGLAND
[2] MAYO CLIN & MAYO FDN, ROCHESTER, MN 55905 USA
[3] UNIV CALGARY, FOOTHILLS PROV GEN HOSP, DIV HEMATOL & HEMATOL MALIGNANCIES, CALGARY, AB, CANADA
[4] INST CLIN BIOCHEM, W-5300 BONN 1, GERMANY
[5] UNIV BONN, INST EXPTL HAEMATOL & BLOOD TRANSFUS, W-5300 BONN, GERMANY
[6] UNIV LEIDEN HOSP, HEMOSTASIS & THROMBOSIS RES UNIT, 2300 RC LEIDEN, NETHERLANDS
[7] NATL INST HLTH & MED RES, F-94010 CRETEIL, FRANCE
[8] NARA MED UNIV, DEPT PEDIAT, KASHIHARA, NARA, JAPAN
[9] UNIV OXFORD, SIR WILLIAM DUNN SCH PATHOL, OXFORD OX1 3RE, ENGLAND
关键词
D O I
10.1093/nar/24.1.103
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 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.
引用
收藏
页码:103 / 118
页数:16
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