DELETION OF THE STEROID-BINDING DOMAIN OF THE HUMAN ANDROGEN RECEPTOR GENE IN ONE FAMILY WITH COMPLETE ANDROGEN INSENSITIVITY SYNDROME - EVIDENCE FOR FURTHER GENETIC-HETEROGENEITY IN THIS SYNDROME

被引:193
作者
BROWN, TR
LUBAHN, DB
WILSON, EM
JOSEPH, DR
FRENCH, FS
MIGEON, CJ
机构
[1] UNIV N CAROLINA,DEPT PEDIAT,CHAPEL HILL,NC 27599
[2] UNIV N CAROLINA,DEPT BIOCHEM,CHAPEL HILL,NC 27599
[3] UNIV N CAROLINA,DEPT PHYSIOL,CHAPEL HILL,NC 27599
[4] UNIV N CAROLINA,REPROD BIOL LABS,CHAPEL HILL,NC 27599
关键词
D O I
10.1073/pnas.85.21.8151
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:8151 / 8155
页数:5
相关论文
共 35 条
  • [1] ANDROGEN INSENSITIVITY AS A CAUSE OF INFERTILITY IN OTHERWISE NORMAL MEN
    AIMAN, J
    GRIFFIN, JE
    GAZAK, JM
    WILSON, JD
    MACDONALD, PC
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1979, 300 (05) : 223 - 227
  • [2] ANDROGEN INSENSITIVITY IN MAN - EVIDENCE FOR GENETIC-HETEROGENEITY
    AMRHEIN, JA
    MEYER, WJ
    JONES, HW
    MIGEON, CJ
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1976, 73 (03) : 891 - 894
  • [3] HEMOPHILIA-A - DETECTION OF MOLECULAR DEFECTS AND OF CARRIERS BY DNA ANALYSIS
    ANTONARAKIS, SE
    WABER, PG
    KITTUR, SD
    PATEL, AS
    KAZAZIAN, HH
    MELLIS, MA
    COUNTS, RB
    STAMATOYANNOPOULOS, G
    BOWIE, EJW
    FASS, DN
    PITTMAN, DD
    WOZNEY, JM
    TOOLE, JJ
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1985, 313 (14) : 842 - 848
  • [4] POLYMORPHIC DNA REGION ADJACENT TO THE 5'-END OF THE HUMAN INSULIN GENE
    BELL, GI
    KARAM, JH
    RUTTER, WJ
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (09): : 5759 - 5763
  • [5] CULTURED HUMAN-SKIN FIBROBLASTS - A MODEL FOR THE STUDY OF ANDROGEN ACTION
    BROWN, TR
    MIGEON, CJ
    [J]. MOLECULAR AND CELLULAR BIOCHEMISTRY, 1981, 36 (01) : 3 - 22
  • [6] HUMAN COMPLETE ANDROGEN INSENSITIVITY WITH NORMAL DIHYDROTESTOSTERONE RECEPTOR-BINDING CAPACITY IN CULTURED GENITAL SKIN FIBROBLASTS - EVIDENCE FOR A QUALITATIVE ABNORMALITY OF THE RECEPTOR
    BROWN, TR
    MAES, M
    ROTHWELL, SW
    MIGEON, CJ
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1982, 55 (01) : 61 - 69
  • [7] MALE PSEUDOHERMAPHRODITISM - DEFECTS IN ANDROGEN-DEPENDENT TARGET TISSUES
    BROWN, TR
    [J]. SEMINARS IN REPRODUCTIVE ENDOCRINOLOGY, 1987, 5 (03): : 243 - 259
  • [8] BROWN TR, 1987, HORMONE RESISTANCE O, V1, P157
  • [9] MOLECULAR-CLONING OF HUMAN AND RAT COMPLEMENTARY-DNA ENCODING ANDROGEN RECEPTORS
    CHANG, CS
    KOKONTIS, J
    LIAO, SS
    [J]. SCIENCE, 1988, 240 (4850) : 324 - 326
  • [10] GENE CONVERSION IN SALT-LOSING CONGENITAL ADRENAL-HYPERPLASIA WITH ABSENT COMPLEMENT C4B PROTEIN
    DONOHOUE, PA
    VANDOP, C
    MCLEAN, RH
    WHITE, PC
    JOSPE, N
    MIGEON, CJ
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1986, 62 (05) : 995 - 1002