title: 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.
authors.affiliation: Department of Endocrinology and Metabolism, National Children's Medical Research Center, National Children's Hospital, Tokyo, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Katsumata
authors.forename: A
authors.initials: A
authors.lastname: Tanae
authors.forename: T
authors.initials: T
authors.lastname: Yasunaga
authors.forename: R
authors.initials: R
authors.lastname: Horikawa
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: I
authors.initials: I
authors.lastname: Hibi
mesh_terms: 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
chemical_list: D004247:DNA; D015096:3-Hydroxysteroid Dehydrogenases