The "Reunion" mutation is a complex rearrangement of the CYP21 genes and associated with the 2/3 of classic forms of 21-Hydroxylase Deficiency in the Island

被引：0
|
作者：
Fourmaintraux, A
Alessandri, JL
Tardy, V
Cartault, F
Morel, Y
机构：
[1] ARDPMHE, Dept Pediat, St Pierre, Reunion, France
[2] ARDPMHE, Dept Pediat, St Denis Messageries, Reunion, France
[3] Hop Debrousse, INSERM U329, Lyon, France
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2002年 / 10卷
关键词：
D O I：
暂无
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：
引用
收藏
页码：252 / 252
页数：1
相关论文
共 50 条
  • [1] CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency
    Selma F. Witchel
    Rhonda Smith
    Carlo Enrico Crivellaro
    Thais Della Manna
    Vaê Dichtchekenian
    Nuvarte Setian
    Durval Damiani
    Human Genetics, 2000, 106 : 414 - 419
  • [2] PRO-453 TO SER MUTATION IN CYP21 IS ASSOCIATED WITH NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY
    OWERBACH, D
    SHERMAN, L
    BALLARD, AL
    AZZIZ, R
    MOLECULAR ENDOCRINOLOGY, 1992, 6 (08) : 1211 - 1215
  • [3] CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency
    Witchel, SF
    Smith, R
    Crivellaro, CE
    Della Manna, T
    Dichtchekenian, V
    Setian, N
    Damiani, D
    HUMAN GENETICS, 2000, 106 (04) : 414 - 419
  • [4] The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency
    Hsien-Hsiung Lee
    Journal of Human Genetics, 2004, 49 : 65 - 72
  • [5] The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency
    Lee, HH
    JOURNAL OF HUMAN GENETICS, 2004, 49 (02) : 65 - 72
  • [6] Genetic diagnosis of 21-hydroxylase deficiency:: DGGE-based mutation scanning of CYP21
    Ohlsson, G
    Müller, J
    Schwartz, M
    HUMAN MUTATION, 1999, 13 (05) : 385 - 389
  • [7] p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency
    Menassa, R.
    Tardy, V.
    Despert, F.
    Bouvattier-Morel, C.
    Brossier, J. P.
    Cartigny, M.
    Morel, Y.
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (05): : 1901 - 1908
  • [8] Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    Lee, HH
    Chang, JG
    Tsai, CH
    Tsai, FJ
    Chao, HT
    Chung, BC
    CLINICAL CHEMISTRY, 2000, 46 (05) : 606 - 611
  • [9] Mutations of the CYP21 gene in nonclassical steroid 21-hydroxylase deficiency in Japan
    Tajima, T
    Fujieda, K
    Nakae, J
    Mikami, A
    Cutler, GB
    ENDOCRINE JOURNAL, 1998, 45 (04) : 493 - 497
  • [10] Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency
    H.-H. Lee
    D.-M. Niu
    R.-W. Lin
    P. Chan
    C.-Y. Lin
    Journal of Human Genetics, 2002, 47 : 517 - 522
12345