A novel missense mutation in the type II 3 beta-hy...[Hum Mol Genet. 1995] - PubMed Result

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1: Hum Mol Genet. 1995 Apr;4(4):745-6. Links

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, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I.

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

PMID: 7633426 [PubMed - indexed for MEDLINE]

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A novel missense mutation in the type II 3 beta-hydroxysteroid dehydrogenase gene in a fam...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.

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