title: Two novel mutations in the LOR gene in three families with loricrin keratoderma.
authors.affiliation: Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Hotz
authors.forename: E
authors.initials: E
authors.lastname: Bourrat
authors.forename: I
authors.initials: I
authors.lastname: Hausser
authors.forename: M
authors.initials: M
authors.lastname: Haftek
authors.forename: M V
authors.initials: MV
authors.lastname: da Silva
authors.forename: J
authors.initials: J
authors.lastname: Fischer
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D016355:Genes, pX / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007645:Keratoderma, Palmoplantar; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D012873:Skin Diseases, Genetic / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C064554:loricrin