title: Novel point mutation in the STS gene in a patient with X-linked recessive ichthyosis.
authors.forename: Mårten C G
authors.initials: MC
authors.lastname: Winge
authors.forename: Torborg
authors.initials: T
authors.lastname: Hoppe
authors.forename: Agne
authors.initials: A
authors.lastname: Liedén
authors.forename: Magnus
authors.initials: M
authors.lastname: Nordenskjöld
authors.forename: Anders
authors.initials: A
authors.lastname: Vahlquist
authors.forename: Carl-Fredrik
authors.initials: CF
authors.lastname: Wahlgren
authors.forename: Hans
authors.initials: H
authors.lastname: Törmä
authors.forename: Maria
authors.initials: M
authors.lastname: Bradley
authors.forename: Berit
authors.initials: B
authors.lastname: Berne
mesh_terms: D000368:Aged; D001483:Base Sequence; D041321:Chromosomes, Human, X; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics* / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D012867:Skin / Q000473:pathology; D043266:Steryl-Sulfatase / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D043266:Steryl-Sulfatase