A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

Journal Article A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency Get access Noriyuki Katsumata, Noriyuki Katsumata * *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Ayako Tanae, Ayako Tanae 1Division of Endocrinology and Metabolism, National Children's Hospital3–35–31 Taishido, Setagaya-ku, Tokyo 154, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Toru Yasunaga, Toru Yasunaga Search for other works by this author on: Oxford Academic PubMed Google Scholar Reiko Horikawa, Reiko Horikawa Search for other works by this author on: Oxford Academic PubMed Google Scholar Toshiaki Tanaka, Toshiaki Tanaka Search for other works by this author on: Oxford Academic PubMed Google Scholar Itsuro Hibi Itsuro Hibi 1Division of Endocrinology and Metabolism, National Children's Hospital3–35–31 Taishido, Setagaya-ku, Tokyo 154, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 4, Issue 4, April 1995, Pages 745–746, https://doi.org/10.1093/hmg/4.4.745 Published: 01 April 1995 Article history Received: 03 November 1994 Revision received: 16 January 1995 Accepted: 16 January 1995 Published: 01 April 1995