Smith-Lemli-Opitz syndrome: molecular-genetic analysis of ten families.
Kozák
L
L
Research Institute of Child Health, Department of Biochemical and Molecular Genetics, Brno, Czech Republic. liborkoz@hotmail.com
Francová
H
H
Hrabincová
E
E
Procházková
D
D
Jüttnerová
V
V
Bzdúch
V
V
Simek
P
P
D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D010088:Oxidoreductases / Q000172:deficiency / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012326:RNA Splicing; D019082:Smith-Lemli-Opitz Syndrome / Q000201:enzymology / Q000235:genetics*
D018389:Codon, Nonsense; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase