title: Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome.
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Breisacherstraße 33, 79106, Freiburg, Germany; Faculty of Biology, University of Freiburg, Schänzlestraße 1, 79104, Freiburg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Kirchmeier
authors.forename: E
authors.initials: E
authors.lastname: Sayar
authors.forename: A
authors.initials: A
authors.lastname: Hotz
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: A
authors.initials: A
authors.lastname: Islek
authors.forename: A
authors.initials: A
authors.lastname: Yilmaz
authors.forename: R
authors.initials: R
authors.lastname: Artan
authors.forename: J
authors.initials: J
authors.lastname: Fischer
mesh_terms: D000328:Adult; D000505:Alopecia / Q000235:genetics*; D015209:Cholangitis, Sclerosing / Q000235:genetics*; D062445:Claudin-1 / Q000172:deficiency* / Q000235:genetics; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D007960:Leukocyte Disorders / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: C568108:CLDN1 protein, human; D062445:Claudin-1; D018389:Codon, Nonsense