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

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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1
Department of Endocrinology and Metabolism, National Children's Medical Research Center, National Children's Hospital, Tokyo, Japan.
PMID:
7633426
[Indexed for MEDLINE]
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