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Volumn 109, Issue 2, 1997, Pages 244-245

A novel point mutation in the steroid sulfatase gene in X-linked ichthyosis

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; STERYL SULFATASE;

EID: 0030792221     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12319777     Document Type: Article
Times cited : (20)

References (13)
  • 3
    • 0025220144 scopus 로고
    • Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification
    • Ballabio A, Ranier JE, Chamberlain JS, Zollo M, Caskey T: Screening for steroid sulfatase (STS) gene deletions by multiplex DNA amplification. Hum Genet 84:571-573, 1990
    • (1990) Hum Genet , vol.84 , pp. 571-573
    • Ballabio, A.1    Ranier, J.E.2    Chamberlain, J.S.3    Zollo, M.4    Caskey, T.5
  • 4
    • 0026550483 scopus 로고
    • Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis
    • Basler E, Grompe M, Parenti G, Yates J, Ballabio A: Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis. Am J Hum Genet 50:483-491, 1992
    • (1992) Am J Hum Genet , vol.50 , pp. 483-491
    • Basler, E.1    Grompe, M.2    Parenti, G.3    Yates, J.4    Ballabio, A.5
  • 5
    • 0023473993 scopus 로고
    • Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis
    • Bonifas J, Morley BJ, Oakey RE, Kan Y-W, Epstein Jr EH: Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA 84:9248-9251, 1987
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 9248-9251
    • Bonifas, J.1    Morley, B.J.2    Oakey, R.E.3    Kan, Y.-W.4    Epstein Jr., E.H.5
  • 7
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi H, Sekiya T: Detection of polymorphisms of human DNA by gel electrophoresis as single-stranded conformation polymorphisms. Proc Natl Acad Sci USA 86:2766-2770, 1989
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, H.4    Sekiya, T.5
  • 9
    • 84919585371 scopus 로고
    • X-linked ichthyosis due to steroid-sulfatase deficiency
    • Shapiro LJ, Weiss R: X-linked ichthyosis due to steroid-sulfatase deficiency. Lancet 14:70-72, 1978
    • (1978) Lancet , vol.14 , pp. 70-72
    • Shapiro, L.J.1    Weiss, R.2
  • 11
    • 0027731557 scopus 로고
    • Steroid sulfatase deficiency in Japanese patients: Characterization of X-linked ichthyosis by using polymerase chain reaction
    • Sugawara T, Honke K, Fujimoto S, Makita A: Steroid sulfatase deficiency in Japanese patients: characterization of X-linked ichthyosis by using polymerase chain reaction. Jpn J Hum Genet 38:421-428, 1993
    • (1993) Jpn J Hum Genet , vol.38 , pp. 421-428
    • Sugawara, T.1    Honke, K.2    Fujimoto, S.3    Makita, A.4
  • 13
    • 0023662270 scopus 로고
    • Cloning and expression of the steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implication for X-Y interchanges
    • Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ: Cloning and expression of the steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implication for X-Y interchanges. Cell 49:443-454, 1987
    • (1987) Cell , vol.49 , pp. 443-454
    • Yen, P.H.1    Allen, E.2    Marsh, B.3    Mohandas, T.4    Wang, N.5    Taggart, R.T.6    Shapiro, L.J.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.