A Novel Nonstop Mutation in the Stop Codon and a Novel Missense Mutation in the Type II 3β-Hydroxysteroid Dehydrogenase (3β-HSD) Gene Causing, Respectively, Nonclassic and Classic 3β-HSD Deficiency Congenital Adrenal Hyperplasia
Pang, Songya, Wang, Weihua, Rich, Barry, David, Raphael, Chang, Ying Tai, Carbunaru, Goldy, Myers, Susan E., Howie, A. Forbes, Smillie, Karen J., Mason, J. IanVolume:
87
Language:
english
Journal:
The Journal of Clinical Endocrinology & Metabolism
DOI:
10.1210/jcem.87.6.8559
Date:
June, 2002
File:
PDF, 306 KB
english, 2002