PREMATURE TERMINATION CODON AT THE STEROL 27-HYDROXYLASE GENE CAUSES CEREBROTENDINOUS XANTHOMATOSIS IN AN AFRIKANER FAMILY

被引:23
|
作者
MEINER, V
MARAIS, DA
RESHEF, A
BJORKHEM, I
LEITERSDORF, E
机构
[1] HADASSAH UNIV HOSP,DIV MED,IL-91120 JERUSALEM,ISRAEL
[2] HADASSAH UNIV HOSP,CTR RES PREVENT & TREATMENT ATHEROSCLEROSIS,IL-91120 JERUSALEM,ISRAEL
[3] HUDDINGE UNIV HOSP,KAROLINSKA INST,DEPT CLIN CHEM,S-14186 HUDDINGE,SWEDEN
[4] UNIV CAPE TOWN,SCH MED,DEPT INTERNAL MED,CAPE TOWN 7925,SOUTH AFRICA
关键词
D O I
10.1093/hmg/3.1.193
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
[No abstract available]
引用
收藏
页码:193 / 194
页数:2
相关论文
共 50 条
  • [1] PREMATURE TERMINATION CODON AT THE STEROL 27-HYDROXYLASE GENE CAUSES CEREBROTENDINOUS XANTHOMATOSIS IN A FRENCH FAMILY
    SEGEV, H
    RESHEF, A
    CLAVEY, V
    DELBART, C
    ROUTIER, G
    LEITERSDORF, E
    HUMAN GENETICS, 1995, 95 (02) : 238 - 240
  • [2] 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
    Di Tian
    Zai-qiang Zhang
    BMC Neurology, 11
  • [3] 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
    Tian, Di
    Zhang, Zai-qiang
    BMC NEUROLOGY, 2011, 11
  • [4] Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy
    Watts, GF
    Mitchell, WD
    Bending, JJ
    Reshef, A
    Leitersdorf, E
    QJM-MONTHLY JOURNAL OF THE ASSOCIATION OF PHYSICIANS, 1996, 89 (01): : 55 - 63
  • [5] Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
    A. Verrips
    Gerry C. H. Steenbergen-Spanjers
    J. A. F. M. Luyten
    R. A. Wevers
    John H. J. Wokke
    Fons J. M. Gabreëls
    Bert G. Wolthers
    Lambert P. W. J. van den Heuvel
    Human Genetics, 1997, 100 : 284 - 286
  • [6] Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
    Verrips, A
    SteenbergenSpanjers, GCH
    Luyten, JAFM
    Wevers, RA
    Wokke, JHJ
    Gabreels, FJM
    Wolthers, BG
    vandenHeuvel, LPWJ
    HUMAN GENETICS, 1997, 100 (02) : 284 - 286
  • [7] Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis
    Ming-Jen Lee
    Yuan-Chung Huang
    Mary G. Sweeney
    Nicholas W. Wood
    Mary M. Reilly
    Ping-Keung Yip
    Journal of Neurology, 2002, 249 : 1311 - 1312
  • [8] Mutation of the sterol 27-hydroxylase gene (CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis
    Lee, MJ
    Huang, YC
    Sweeney, MG
    Wood, NW
    Reilly, MM
    Yip, PK
    JOURNAL OF NEUROLOGY, 2002, 249 (09) : 1311 - 1312
  • [9] Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis
    Garuti, R
    Lelli, N
    Barozzini, M
    Dotti, MT
    Federico, A
    Bertolini, S
    Calandra, S
    JOURNAL OF LIPID RESEARCH, 1996, 37 (03) : 662 - 672
  • [10] A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis
    Ahmed, MS
    Afsar, S
    Hentati, A
    Ahmad, A
    Pasha, J
    Juneja, T
    Hung, WY
    Ahmad, A
    Choudhri, A
    Saya, S
    Siddique, T
    NEUROLOGY, 1997, 48 (01) : 258 - 260