Identification of a frequent RsaI polymorphism in the CYP21 (steroid 21-hydroxylase) gene.

被引:0
|
作者
Wei, WL [1 ]
Killeen, AA [1 ]
机构
[1] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA
关键词
D O I
暂无
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
138
引用
收藏
页码:A33 / A33
页数:1
相关论文
共 50 条
  • [41] Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene
    Tajima, T
    Fujieda, K
    Mikami, A
    Igarashi, Y
    Nakae, J
    Cutler, GB
    ENDOCRINE JOURNAL, 1998, 45 (03) : 291 - 295
  • [42] STUDY OF THE CYP21 GENE IN AN ARGENTINEAN POPULATION OF PATIENTS (P) WITH 21-HYDROXYLASE ENZYME DEFICIENCY (CAH)
    DARDIS, A
    SARACO, N
    RIVAROLA, MA
    BELGOROSKY, A
    PEDIATRIC RESEARCH, 1995, 38 (04) : 21 - 21
  • [43] Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency
    Lee, HH
    Chang, SF
    Lo, FS
    Chao, HT
    Lin, CY
    MOLECULAR GENETICS AND METABOLISM, 2003, 79 (03) : 214 - 220
  • [44] A MUTATION (PRO-30 TO LEU) IN CYP21 REPRESENTS A POTENTIAL NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY ALLELE
    TUSIELUNA, MT
    SPEISER, PW
    DUMIC, M
    NEW, MI
    WHITE, PC
    MOLECULAR ENDOCRINOLOGY, 1991, 5 (05) : 685 - 692
  • [45] THE HUMAN-COMPLEMENT C4B STEROID 21-HYDROXYLASE (CYP21) AND COMPLEMENT C4A/21-HYDROXYLASE PSEUDOGENE (CYP21P) INTERGENIC SEQUENCES - COMPARISON AND IDENTIFICATION OF POSSIBLE REGULATORY ELEMENTS
    DONOHOUE, PA
    COLLINS, MM
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 186 (01) : 256 - 262
  • [46] FREQUENT DELETION AND DUPLICATION OF THE STEROID 21-HYDROXYLASE GENES
    WERKMEISTER, JW
    NEW, MI
    DUPONT, B
    WHITE, PC
    AMERICAN JOURNAL OF HUMAN GENETICS, 1986, 39 (04) : 461 - 469
  • [47] Newborn screening for 21-hydroxylase deficiency: Results of CYP21 molecular genetic analysis
    Witchel, SF
    Nayak, S
    SudaHartman, M
    Lee, PA
    JOURNAL OF PEDIATRICS, 1997, 131 (02): : 328 - 331
  • [48] A MUTATION (PRO-30 TO LEU) IN CYP21 REPRESENTS A POTENTIAL NONCLASSIC STEROID 21-HYDROXYLASE DEFICIENCY ALLELE
    TUSIELUNA, MT
    SPEISER, PW
    DUMIC, M
    NEW, MI
    WHITE, PC
    CLINICAL RESEARCH, 1991, 39 (02): : A377 - A377
  • [49] Mutational analysis of CYP21 gene in Slovak patients with 21-hydroxylase deficiency and comparison with other European populations
    Weisenpacherová, R
    Pribilincová, Z
    Behulová, R
    Mezenská, R
    Lukácová, M
    BIOLOGIA, 2004, 59 (06) : 795 - 802
  • [50] STEROID 21-HYDROXYLASE GENE POLYMORPHISM IN ADDISONS-DISEASE PATIENTS
    PETERSON, P
    PARTANEN, J
    AAVIK, E
    SALMI, H
    PELKONEN, R
    KROHN, KJE
    TISSUE ANTIGENS, 1995, 46 (01): : 63 - 67