Article
CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Aug 1996
Geley S, Kapelari K, Jöhrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell W G, White P C, Kofler R
Abstract excerpt
Accurate knowledge of the molecular basis of congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a prerequisite for genetic counseling, prenatal diagnosis, and treatment. Analysis of nine patients suffering from severe manifestations of this disorder led to the identification of seven novel mutations in their CYP11B1 genes. A Caucasian patient was homozygous for the missense mutation R448H,...
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