Characterization of a novel point mutation (Arg432His) in X-linked ichthyosis.
Valdes-Flores
M
M
Jimenez Vaca
A L
AL
Kofman-Alfaro
S H
SH
Cuevas-Covarrubias
S A
SA
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
D006639:Histidine; D001120:Arginine; D001192:Arylsulfatases