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Volumn 131, Issue 5, 2011, Pages 1025-1028

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; ARGININE; ASPARAGINE; CYTOKERATIN 16; CYTOKERATIN 17; CYTOKERATIN 6; KERATIN 6A; KERATIN 6B; UNCLASSIFIED DRUG;

EID: 79954602190     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.373     Document Type: Article
Times cited : (32)

References (10)
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    • Pachyonychia congenita: Mutations and clinical presentations
    • DOI 10.1046/j.1365-2133.2001.04216.x
    • Munro CS (2001) Pachyonychia congenita: mutations and clinical presenta-tions. Br J Dermatol 144:929-30 (Pubitemid 34203341)
    • (2001) British Journal of Dermatology , vol.144 , Issue.5 , pp. 929-930
    • Munro, C.S.1
  • 4
    • 0026709329 scopus 로고
    • Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces
    • Serrano L, Sancho J, Hirshberg M et al. (1992) Alpha-helix stability in proteins. I. Empirical correlations concerning substitution of side-chains at the N and C-caps and the replacement of alanine by glycine or serine at solvent-exposed surfaces. J Mol Biol 227:544-59
    • (1992) J Mol Biol , vol.227 , pp. 544-559
    • Serrano, L.1    Sancho, J.2    Hirshberg, M.3
  • 5
    • 0028864458 scopus 로고
    • Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar kerato-derma (NEPPK) in two families
    • Shamsher MK, Navsaria HA, Stevens HP et al. (1995) Novel mutations in keratin 16 gene underlie focal non-epidermolytic palmoplantar kerato-derma (NEPPK) in two families. Hum Mol Genet 4:1875-81
    • (1995) Hum Mol Genet , vol.4 , pp. 1875-1881
    • Shamsher, M.K.1    Navsaria, H.A.2    Stevens, H.P.3
  • 9
    • 0027730471 scopus 로고
    • Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses
    • DOI 10.1006/bbrc.1993.2555
    • Steinert PM, Yang JM, Bale SJ et al. (1993) Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses. Biochem Biophys Res Commun 197:840-8 (Pubitemid 24034646)
    • (1993) Biochemical and Biophysical Research Communications , vol.197 , Issue.2 , pp. 840-848
    • Steinert, P.M.1    Yang, J.-M.2    Bale, S.J.3    Compton, J.G.4
  • 10
    • 79954657373 scopus 로고    scopus 로고
    • A large mutational study in pachyonychia congenita
    • Wilson NJ, Leachman SA, Hansen CD et al. (2011) A large mutational study in pachyonychia congenita. J Invest Dermatol 131:1018-24
    • (2011) J Invest Dermatol , vol.131 , pp. 1018-1024
    • Wilson, N.J.1    Leachman, S.A.2    Hansen, C.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.