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

Hum Mol Genet. 1995 Apr;4(4):745-6. doi: 10.1093/hmg/4.4.745.

Authors

N Katsumata¹, A Tanae, T Yasunaga, R Horikawa, T Tanaka, I Hibi

Affiliation

¹ Department of Endocrinology and Metabolism, National Children's Medical Research Center, National Children's Hospital, Tokyo, Japan.

PMID: 7633426
DOI: 10.1093/hmg/4.4.745

No abstract available

MeSH terms

3-Hydroxysteroid Dehydrogenases / deficiency
3-Hydroxysteroid Dehydrogenases / genetics*
Adrenal Hyperplasia, Congenital / genetics*
Amino Acid Sequence
Animals
Base Sequence
DNA
Family Health
Female
Humans
Male
Molecular Sequence Data
Mutation*

Substances

DNA
3-Hydroxysteroid Dehydrogenases