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Volumn 86, Issue 1, 2006, Pages 78-79

Point mutation in the STS gene in a severely affected patient with x-linked recessive ichthyosis [12]

Author keywords

[No Author keywords available]

Indexed keywords

STERYL SULFATASE; ARYLSULFATASE;

EID: 33744769067     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.1080/00015550510043993     Document Type: Letter
Times cited : (8)

References (17)
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    • Muller, C.R.1    Wahlstrom, J.2    Ropers, H.H.3
  • 3
    • 0025280088 scopus 로고
    • Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements
    • Yen PH, Li XM, Tsai SP, Johnson C. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell 1990; 61: 603-610.
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  • 4
    • 0024527636 scopus 로고
    • Molecular heterogeneity of steroid sulfatase deficiency: A multicenter study on 57 unrelated patients, at DNA and protein levels
    • Ballabio A, Carrozzo R, Parenti G, Gil A, Zollo M, Persico MG, et al. Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels. Genomics 1989; 4: 36-40.
    • (1989) Genomics , vol.4 , pp. 36-40
    • Ballabio, A.1    Carrozzo, R.2    Parenti, G.3    Gil, A.4    Zollo, M.5    Persico, M.G.6
  • 5
    • 0028818051 scopus 로고
    • Study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction
    • Nomura K, Nakano H, Umeki K, Harada K, Kon A, Tamai K, et al. Study of the steroid sulfatase gene in families with X-linked ichthyosis using polymerase chain reaction. Acta Derm Venereol 1995; 75: 340-342.
    • (1995) Acta Derm Venereol , vol.75 , pp. 340-342
    • Nomura, K.1    Nakano, H.2    Umeki, K.3    Harada, K.4    Kon, A.5    Tamai, K.6
  • 8
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    • Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: Analysis by polymerase chain reaction and fluorescence in situ hybridization techniques
    • Aviram-Goldring A, Goldman B, Netanelov-Shapira I, Chen-Shtoyerman R, Zvulunov A, Tal O, et al. Deletion patterns of the STS gene and flanking sequences in Israeli X-linked ichthyosis patients and carriers: analysis by polymerase chain reaction and fluorescence in situ hybridization techniques. Int J Dermatol 2000; 39: 182-187.
    • (2000) Int J Dermatol , vol.39 , pp. 182-187
    • Aviram-Goldring, A.1    Goldman, B.2    Netanelov-Shapira, I.3    Chen-Shtoyerman, R.4    Zvulunov, A.5    Tal, O.6
  • 9
    • 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 1992; 50: 483-491.
    • (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
  • 10
    • 0030753202 scopus 로고    scopus 로고
    • Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein
    • Alperin ES, Shapiro LJ. Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein. J Biol Chem 1997; 272: 20756-20763.
    • (1997) J Biol Chem , vol.272 , pp. 20756-20763
    • Alperin, E.S.1    Shapiro, L.J.2
  • 12
    • 0034146743 scopus 로고    scopus 로고
    • PCR diagnosis of X-linked ichthyosis: Identification of a novel mutation (E560P) of the steroid sulfatase gene
    • Sugawara T, Shimizu H, Hoshi N, Fujimoto Y, Nakajima A, Fujimoto S. PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) of the steroid sulfatase gene. Hum Mutat 2000; 15: 296.
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  • 13
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    • Oyama N, Satoh M, Iwatsuki K, Kaneko F. Novel point mutations in the steroid sulfatase gene in patients with X-linked ichthyosis: transfection analysis using the mutated genes. J Invest Dermatol 2000; 114: 1195-1199.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.