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Volumn 158, Issue 4, 2008, Pages 831-833

Three novel ATP2C1 mutations in Chinese patients with Hailey-Hailey disease

Author keywords

ATP2C1 gene; Hailey Hailey disease; Mutation

Indexed keywords

GENOMIC DNA;

EID: 40949090539     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.08400.x     Document Type: Article
Times cited : (10)

References (10)
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  • 2
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    • Mutations in the ATP2C1 gene in Chinese patients with Hailey-Hailey disease
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  • 3
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    • Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24
    • Richard G, Korge BP, Wright AR et al. Hailey-Hailey disease maps to a 5 cM interval on chromosome 3q21-q24. J Invest Dermatol 1995 105 : 357 60.
    • (1995) J Invest Dermatol , vol.105 , pp. 357-60
    • Richard, G.1    Korge, B.P.2    Wright, A.R.3
  • 4
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    • Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease
    • Hu Z, Bonifas JM, Beech J et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000 24 : 61 5.
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    • Hu, Z.1    Bonifas, J.M.2    Beech, J.3
  • 7
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    • Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease
    • Li H, Sun XK, Zhu XJ. Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease. Br J Dermatol 2003 149 : 471 4.
    • (2003) Br J Dermatol , vol.149 , pp. 471-4
    • Li, H.1    Sun, X.K.2    Zhu, X.J.3
  • 8
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    • Hailey-Hailey disease: Identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels
    • Fairclough RJ, Lonie L, van Baelen K et al. Hailey-Hailey disease: identification of novel mutations in ATP2C1 and effect of missense mutation A528P on protein expression levels. J Invest Dermatol 2004 123 : 67 71.
    • (2004) J Invest Dermatol , vol.123 , pp. 67-71
    • Fairclough, R.J.1    Lonie, L.2    Van, B.K.3
  • 9
    • 33644810566 scopus 로고    scopus 로고
    • ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease
    • Majore S, Biolcati G, Barboni L et al. ATP2C1 gene mutation analysis in Italian patients with Hailey-Hailey disease. J Invest Dermatol 2005 125 : 933 5.
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    • Transcriptional regulation of ATP2C1 gene by Sp1 and YY1 and reduced function of its promoter in Hailey-Hailey disease keratinocytes
    • Kawada H, Nishiyama C, Takagi A et al. Transcriptional regulation of ATP2C1 gene by Sp1 and YY1 and reduced function of its promoter in Hailey-Hailey disease keratinocytes. J Invest Dermatol 2005 124 : 1206 14.
    • (2005) J Invest Dermatol , vol.124 , pp. 1206-14
    • Kawada, H.1    Nishiyama, C.2    Takagi, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.