Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.
Waye
J S
JS
Nakamura
L M
LM
Eng
B
B
Hunnisett
L
L
Chitayat
D
D
Costa
T
T
Nowaczyk
M J M
MJ
D002170:Canada; D005787:Gene Frequency; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D020641:Polymorphism, Single Nucleotide; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*
D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase