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Volumn 46, Issue 2, 1997, Pages 155-160

Mutations of the 5α-reductase Type 2 gene in eight Mexican patients from six different pedigrees with 5α-reductase-2 deficiency

Author keywords

[No Author keywords available]

Indexed keywords

OXIDOREDUCTASE;

EID: 0030971433     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1997.800904.x     Document Type: Article
Times cited : (65)

References (21)
  • 1
    • 0026055914 scopus 로고
    • Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism
    • Andersson, S., Berman, D.M., Jenkins, E.P. & Russell, D.W. (1991) Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism. Nature, 354, 159-161.
    • (1991) Nature , vol.354 , pp. 159-161
    • Andersson, S.1    Berman, D.M.2    Jenkins, E.P.3    Russell, D.W.4
  • 2
    • 0029121485 scopus 로고
    • A new deletion of the 5α-reductase type 2 gene in a turkish family with 5α-reductase deficiency
    • Boudon, C.H., Lobaccaro, J.M., Ögur, G., Öcal, G., Belon, C.H. & Sultan, C.H. (1995a) A new deletion of the 5α-reductase type 2 gene in a turkish family with 5α-reductase deficiency. Clinical Endocrinology, 43, 183-188.
    • (1995) Clinical Endocrinology , vol.43 , pp. 183-188
    • Boudon, C.H.1    Lobaccaro, J.M.2    Ögur, G.3    Öcal, G.4    Belon, C.H.5    Sultan, C.H.6
  • 4
    • 0029886425 scopus 로고    scopus 로고
    • Steroid 5 α-reductase 2 deficiency: Virilization in early infancy may be due to partial function of mutant enzyme
    • Forti, G., Falchetti, A., Santoro, S., Davis, D.L., Wilson, J.D. & Russell, D.W. (1996) Steroid 5 α-reductase 2 deficiency: virilization in early infancy may be due to partial function of mutant enzyme. Clinical Endocrinology, 44, 477-482.
    • (1996) Clinical Endocrinology , vol.44 , pp. 477-482
    • Forti, G.1    Falchetti, A.2    Santoro, S.3    Davis, D.L.4    Wilson, J.D.5    Russell, D.W.6
  • 5
    • 0002719881 scopus 로고
    • The androgen resistance syndrome: 5α-reductase deficiency, testicular feminization and related disorders
    • eds. C.R. Scriver, et al., McGraw Hill, New York
    • Griffin, J.E. & Wilson, J.D. (1989) The androgen resistance syndrome: 5α-reductase deficiency, testicular feminization and related disorders. In: The Metabolic Basis of Inherited Disease (eds. C.R. Scriver, et al.), pp. 1919-1944. McGraw Hill, New York.
    • (1989) The Metabolic Basis of Inherited Disease , pp. 1919-1944
    • Griffin, J.E.1    Wilson, J.D.2
  • 6
    • 0016359646 scopus 로고
    • Steroid 5α-reductase deficiency in man: An inherited form of male pseudohermaphroditism
    • Imperato-McGinley, J., Guerrero, L., Gautier, T. & Peterson, R.E. (1974) Steroid 5α-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science, 186, 1213-1215.
    • (1974) Science , vol.186 , pp. 1213-1215
    • Imperato-McGinley, J.1    Guerrero, L.2    Gautier, T.3    Peterson, R.E.4
  • 13
    • 0024756969 scopus 로고
    • Rapid and sensitive detection of point mutations and DNA-polymorphism using the polymerase chain reaction
    • Orita, M., Suzuki, Y., Sekiya, T. & Hayashi, K. (1989) Rapid and sensitive detection of point mutations and DNA-polymorphism using the polymerase chain reaction. Genomics, 5, 874-879.
    • (1989) Genomics , vol.5 , pp. 874-879
    • Orita, M.1    Suzuki, Y.2    Sekiya, T.3    Hayashi, K.4
  • 19
    • 0016304673 scopus 로고
    • Familial incomplete male pseudohermaphroditism type 2: Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias
    • Walsh, P.C., Madden, J.D., Harrod, M.J., Goldstein, J.L., MacDonald, P.C. & Wilson, J.D. (1974) Familial incomplete male pseudohermaphroditism type 2: decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. New England Journal of Medicine, 291, 944-949.
    • (1974) New England Journal of Medicine , vol.291 , pp. 944-949
    • Walsh, P.C.1    Madden, J.D.2    Harrod, M.J.3    Goldstein, J.L.4    MacDonald, P.C.5    Wilson, J.D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.