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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Katsumata N, Tanae A, Yasunaga T, Horikawa R, Tanaka T, Hibi I
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.
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- 7633426 [ View in PubMed]
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