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Volumn 120, Issue 6, 2003, Pages 967-969

A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: Evidence of a founder effect

Author keywords

ARS (component B); Founder; Mal de Meleda; Mutation; SLURP 1

Indexed keywords

AMINO ACID SEQUENCE; ARS B GENE; ARTICLE; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; GENE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC MARKER; HAPLOTYPE; HEREDITY; HUMAN; KERATOSIS PALMOPLANTARIS; MAL DE MELEDA; MALE; NONSENSE MUTATION; PEDIGREE; PRIORITY JOURNAL; TURKEY (REPUBLIC); WILD TYPE;

EID: 0037791884     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12248.x     Document Type: Article
Times cited : (10)

References (12)
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    • Adermann K, Wattler F, Wattler S, Heine G, Meyer M, Forssman WG, Nehls M: Structural and phylogenetic characterization of human SLURP-1, the first secreted mammalian member of the Ly-6/uPAR protein superfamily. Protein Science 8:810-819, 1999
    • (1999) Protein Science , vol.8 , pp. 810-819
    • Adermann, K.1    Wattler, F.2    Wattler, S.3    Heine, G.4    Meyer, M.5    Forssman, W.G.6    Nehls, M.7
  • 2
    • 0033666878 scopus 로고    scopus 로고
    • Mal de Meleda: A review of Turkish reports
    • Ayman T, Yerebakan O, Yilmaz E: Mal de Meleda: A review of Turkish reports. J Dermatol 27:664-668, 2000
    • (2000) J Dermatol , vol.27 , pp. 664-668
    • Ayman, T.1    Yerebakan, O.2    Yilmaz, E.3
  • 6
    • 0035311667 scopus 로고    scopus 로고
    • Mutations in the gene encoding SLURP-1 in mal de Meleda
    • Fischer J, Bouadjar B, Heilig R, et al: Mutations in the gene encoding SLURP-1 in mal de Meleda. Hum Mol Genet 10:875-880, 2001
    • (2001) Hum Mol Genet , vol.10 , pp. 875-880
    • Fischer, J.1    Bouadjar, B.2    Heilig, R.3
  • 8
    • 0021806627 scopus 로고
    • Report of a family with mal de Meleda in Taiwan: A clinical, histopathological and immunological study
    • Jee SH, Lee YY, Wu YC, Lu YC, Pan CC: Report of a family with mal de Meleda in Taiwan: A clinical, histopathological and immunological study. Dermatologica 171:30-37, 1985
    • (1985) Dermatologica , vol.171 , pp. 30-37
    • Jee, S.H.1    Lee, Y.Y.2    Wu, Y.C.3    Lu, Y.C.4    Pan, C.C.5
  • 12
    • 0037241157 scopus 로고    scopus 로고
    • Identification of recurrent mutation in ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda
    • Ward KM, Yerebakan O, Ertan Y, Celebi JT: Identification of recurrent mutation in ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda. J Invest Dermatol 120:96-98, 2003
    • (2003) J Invest Dermatol , vol.120 , pp. 96-98
    • Ward, K.M.1    Yerebakan, O.2    Ertan, Y.3    Celebi, J.T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.