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Novel mutation in the CLDN 1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis ( NISCH ) syndrome
Author(s) -
Kirchmeier P.,
Sayar E.,
Hotz A.,
Hausser I.,
Islek A.,
Yilmaz A.,
Artan R.,
Fischer J.
Publication year - 2014
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/bjd.12724
Subject(s) - ichthyosis , hypotrichosis , medicine , nonsense mutation , polydactyly , congenital ichthyosis , genetics , dermatology , biology , mutation , missense mutation , gene