title: Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis.
authors: M
authors: M
authors: Valdes-Flores
authors: A L
authors: AL
authors: Jimenez Vaca
authors: S H
authors: SH
authors: Kofman-Alfaro
authors: S A
authors: SA
authors: Cuevas-Covarrubias
mesh_terms: D001120:Arginine / Q000235:genetics; D001192:Arylsulfatases / Q000235:genetics*; D005091:Exons; D005784:Gene Amplification; D006639:Histidine / Q000235:genetics; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D017354:Point Mutation; D012680:Sensitivity and Specificity
chemical_list: D006639:Histidine; D001120:Arginine; D001192:Arylsulfatases