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Volumn 37, Issue 6, 2010, Pages 559-561

G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30; GAP JUNCTION PROTEIN; GJB6 PROTEIN, HUMAN;

EID: 77952752701     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2009.00768.x     Document Type: Letter
Times cited : (14)

References (9)
  • 1
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    • Hydrotic ectodermal dysplasia - Clouston's family revisited
    • Williams M, Fraser FC. Hydrotic ectodermal dysplasia - Clouston's family revisited. Can Med Assoc J 1967 96 : 36 38.
    • (1967) Can Med Assoc J , vol.96 , pp. 36-38
    • Williams, M.1    Fraser, F.C.2
  • 2
    • 0342572603 scopus 로고    scopus 로고
    • Mutations in GJB6 cause hidrotic ectodermal dysplasia
    • Lamartine J, Munhoz Essenfelder G, Kibar Z et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet 2000 26 : 142 144.
    • (2000) Nat Genet , vol.26 , pp. 142-144
    • Lamartine, J.1    Munhoz Essenfelder, G.2    Kibar, Z.3
  • 3
    • 56549127388 scopus 로고    scopus 로고
    • A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis
    • Baris HN, Zlotogorski A, Peretz-Amit G et al. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. Br J Dermatol 2008 159 : 1373 1376.
    • (2008) Br J Dermatol , vol.159 , pp. 1373-1376
    • Baris, H.N.1    Zlotogorski, A.2    Peretz-Amit, G.3
  • 4
    • 0036122279 scopus 로고    scopus 로고
    • A novel connexin 30 mutation in Clouston syndrome
    • Smith FJ, Morley SM, McLean WH. A novel connexin 30 mutation in Clouston syndrome. J Invest Dermatol 2002 118 : 530 532.
    • (2002) J Invest Dermatol , vol.118 , pp. 530-532
    • Smith, F.J.1    Morley, S.M.2    McLean, W.H.3
  • 5
    • 0028842339 scopus 로고
    • Keratin 16 and keratin 17 mutations cause pachyonychia congenita
    • McLean WH, Rugg EL, Lunny DP et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995 9 : 273 278.
    • (1995) Nat Genet , vol.9 , pp. 273-278
    • McLean, W.H.1    Rugg, E.L.2    Lunny, D.P.3
  • 6
    • 0029039363 scopus 로고
    • Mutation of a type II keratin gene (K6a) in pachyonychia congenita
    • Bowden PE, Haley JL, Kansky A et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995 10 : 363 365.
    • (1995) Nat Genet , vol.10 , pp. 363-365
    • Bowden, P.E.1    Haley, J.L.2    Kansky, A.3
  • 7
    • 0031802077 scopus 로고    scopus 로고
    • A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2
    • Smith FJ, Jonkman MF, van Goor H et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998 7 : 1143 1148.
    • (1998) Hum Mol Genet , vol.7 , pp. 1143-1148
    • Smith, F.J.1    Jonkman, M.F.2    Van Goor, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.