Novel missense mutation (Arg432Cys) in a patient with steroid sulphatase-deficiency.
González-Huerta
L M
LM
Riviera-Vega
M R
MR
Kofman-Alfeuro
S H
SH
Cuevas-Covarrubias
S A
SA
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
D001192:Arylsulfatases; D043266:Steryl-Sulfatase