title: The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.
authors.forename: Ken
authors.initials: K
authors.lastname: Arita
authors.forename: Witold K
authors.initials: WK
authors.lastname: Jacyk
authors.forename: Vesarat
authors.initials: V
authors.lastname: Wessagowit
authors.forename: Elizabeth Jansen
authors.initials: EJ
authors.lastname: van Rensburg
authors.forename: Tracy
authors.initials: T
authors.lastname: Chaplin
authors.forename: Charles A
authors.initials: CA
authors.lastname: Mein
authors.forename: Masashi
authors.initials: M
authors.lastname: Akiyama
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shimizu
authors.forename: Rudolf
authors.initials: R
authors.lastname: Happle
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D000293:Adolescent; D000328:Adult; D001120:Arginine; D002648:Child; D005260:Female; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology*; D007930:Leucine; D008297:Male; D020125:Mutation, Missense; D013019:South Africa; D011503:Transglutaminases / Q000235:genetics*
chemical_list: D001120:Arginine; D011503:Transglutaminases; C105804:transglutaminase 1; D007930:Leucine