Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.
Bzdúch
V
V
Kozák
L
L
Francová
H
H
Behúlová
D
D
D019943:Amino Acid Substitution; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005865:Gestational Age; D006801:Humans; D008297:Male; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*
D004247:DNA; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase