title: Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex.
authors.forename: Monika
authors.initials: M
authors.lastname: Ołdak
authors.forename: Weronika
authors.initials: W
authors.lastname: Szczecińska
authors.forename: Dorota
authors.initials: D
authors.lastname: Przybylska
authors.forename: Radosław B
authors.initials: RB
authors.lastname: Maksym
authors.forename: Marta
authors.initials: M
authors.lastname: Podgórska
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Woźniak
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
authors.forename: Cezary
authors.initials: C
authors.lastname: Kowalewski
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics*; D005091:Exons; D005260:Female; D018628:Gene Dosage; D006801:Humans; D053555:Keratin-5 / Q000235:genetics*; D008297:Male; D009154:Mutation; D010290:Parents; D010375:Pedigree; D017422:Sequence Analysis, DNA; D035781:Siblings
chemical_list: C503940:KRT5 protein, human; D053555:Keratin-5