title: Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency.
authors.forename: L M
authors.initials: LM
authors.lastname: González-Huerta
authors.forename: M R
authors.initials: MR
authors.lastname: Riviera-Vega
authors.forename: S H
authors.initials: SH
authors.lastname: Kofman-Alfeuro
authors.forename: S A
authors.initials: SA
authors.lastname: Cuevas-Covarrubias
mesh_terms: D001192:Arylsulfatases / Q000172:deficiency* / Q000235:genetics*; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA; D043266:Steryl-Sulfatase
chemical_list: D001192:Arylsulfatases; D043266:Steryl-Sulfatase