A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.
Katsumata
N
N
Department of Endocrinology and Metabolism, National Children's Medical Research Center, National Children's Hospital, Tokyo, Japan.
Tanae
A
A
Yasunaga
T
T
Horikawa
R
R
Tanaka
T
T
Hibi
I
I
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency / Q000235:genetics*; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D004247:DNA; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation
D004247:DNA; D015096:3-Hydroxysteroid Dehydrogenases