Plasma measurement of 7-dehydrocholesterol to detect carriers of Smith-Lemli-Opitz syndrome.
Nowaczyk
M J
MJ
D003684:Dehydrocholesterols / Q000097:blood*; D006580:Genetic Carrier Screening; D006801:Humans; D019082:Smith-Lemli-Opitz Syndrome / Q000097:blood / Q000235:genetics*
D003684:Dehydrocholesterols; C016705:7-dehydrocholesterol