A novel nonstop mutation in the stop codon and a novel missense mutation ...

xy林彭

题名	A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia
链接	http://www.ncbi.nlm.nih.gov/pubmed/?term=J.+Clin.+Endocrinol.+Metab.+Vol.+87%2C+pp.+2556%E2%80%932563

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