A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency.
Chin Med J (Engl). 2010 May 20;123(10):1264-8.
Chin Med J (Engl). 2010.
PMID: 20529578