HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS, 5TH EDITION, 1994

被引:66
作者
GIANNELLI, F
GREEN, PM
SOMMER, SS
LILLICRAP, DP
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] QUEENS UNIV, DEPT PATHOL, RICHARDSON LAB, KINGSTON K7L 3N6, ON, CANADA
[4] INST CLIN BIOCHEM, W-5300 BONN 1, GERMANY
[5] UNIV LEIDEN HOSP, HEMOSTASIS & THROMBOSIS RES UNIT, 2300 RC LEIDEN, NETHERLANDS
[6] UNIV BONN, INST EXPTL HAEMATOL & BLOOD TRANSFUS, W-5300 BONN, GERMANY
[7] NATL INST HLTH & MED RES, F-94010 CRETEIL, FRANCE
[8] UNIV OXFORD, SIR WILLIAM DUNN SCH PATHOL, OXFORD OX1 3RE, ENGLAND
[9] NARA MED UNIV, DEPT PAEDIAT, KASHIHARA, NARA 634, JAPAN
关键词
D O I
10.1093/nar/22.17.3534
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 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.
引用
收藏
页码:3534 / 3546
页数:13
相关论文
共 176 条
  • [71] KETTERLING RP, 1994, AM J HUM GENET, V54, P831
  • [72] KETTERLING RP, 1993, AM J HUM GENET
  • [73] RECURRENT MUTATIONS IN THE FACTOR-IX GENE - FOUNDER EFFECT OR REPEAT DE-NOVO EVENTS - INVESTIGATION OF THE GERMAN HEMOPHILIA-B POPULATION AND REVIEW OF DE-NOVO MUTATIONS
    KNOBLOCH, O
    ZOLL, B
    ZERRES, K
    BRACKMANN, HH
    OLEK, K
    LUDWIG, M
    [J]. HUMAN GENETICS, 1993, 92 (01) : 40 - 48
  • [74] KNOBLOCH O, UNPUB
  • [75] KOEBERL DD, 1990, HUM GENET, V84, P387
  • [76] KOEBERL DD, 1990, AM J HUM GENET, V47, P202
  • [77] KOEBERL DD, 1989, AM J HUM GENET, V45, P448
  • [78] KUZE K, 1992, J NARA MED ASS, V43, P503
  • [79] DEFECTIVE PROPEPTIDE PROCESSING AND ABNORMAL ACTIVATION UNDERLIE THE MOLECULAR PATHOLOGY OF FACTOR-IX TROED-Y-RHIW
    LIDDELL, MB
    LILLICRAP, DP
    PEAKE, IR
    BLOOM, AL
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1989, 72 (02) : 208 - 215
  • [80] FACTOR-IX CARDIFF - A VARIANT FACTOR-IX PROTEIN THAT SHOWS ABNORMAL ACTIVATION IS CAUSED BY AN ARGININE TO CYSTEINE SUBSTITUTION AT POSITION 145
    LIDDELL, MB
    PEAKE, IR
    TAYLOR, SAM
    LILLICRAP, DP
    GIDDINGS, JC
    BLOOM, AL
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 1989, 72 (04) : 556 - 560