High frequency of p.Thr93Met in Smith-Lemli-Opitz syndrome patients in Turkey.
S
S
Kalb
A O
AO
Caglayan
A
A
Degerliyurt
S
S
Schmid
S
S
Ceylaner
N
N
Hatipoglu
K
K
Hinderhofer
H
H
Rehder
S
S
Kurtoglu
G
G
Ceylaner
J
J
Zschocke
M
M
Witsch-Baumgartner
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics*; D009154:Mutation; D044925:Oxidoreductases Acting on CH-CH Group Donors / Q000235:genetics*; D019082:Smith-Lemli-Opitz Syndrome / Q000208:ethnology / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D014421:Turkey
D013912:Threonine; D008715:Methionine; D044925:Oxidoreductases Acting on CH-CH Group Donors; C019995:7-dehydrocholesterol reductase