TY - JOUR
T1 - Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia
T2 - identification, functional characterization, and structural analysis
AU - Grischuk, Yulia
AU - Rubtsov, Petr
AU - Riepe, Felix G
AU - Grötzinger, Joachim
AU - Beljelarskaia, Svetlana
AU - Prassolov, Vladimir
AU - Kalintchenko, Natalya
AU - Semitcheva, Tatyana
AU - Peterkova, Valentina
AU - Tiulpakov, Anatoly
AU - Sippell, Wolfgang G
AU - Krone, Nils
PY - 2006
Y1 - 2006
N2 - Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.
AB - Congenital adrenal hyperplasia is a group of autosomal recessive inherited disorders of steroidogenesis. The most frequent cause is the deficiency of steroid 21-hydroxylase (CYP21) due to mutations in the CYP21A2 gene.
U2 - 10.1210/jc.2006-0777
DO - 10.1210/jc.2006-0777
M3 - Article
C2 - 16984992
SN - 0021-972X
VL - 91
SP - 4976
EP - 4980
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 12
ER -