High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.
Umekoji
Ayano
A
Fukai
Kazuyoshi
K
Kasama
Takeshi
T
Yokoi
Toshiaki
T
Saito
Mika
M
Tsuruhara
Akitoshi
A
Ishii
Masamitsu
M
D019943:Amino Acid Substitution; D002775:Cholestadienols / Q000097:blood / Q000378:metabolism*; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008958:Models, Molecular; D020125:Mutation, Missense; D013251:Steroid Isomerases / Q000737:chemistry / Q000235:genetics*
D002775:Cholestadienols; C026359:cholesta-5,8-dien-3 beta-ol; D013251:Steroid Isomerases; C090445:EBP protein, human