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Article

Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

European journal of endocrinology - 1 May 2014

Polat Seher, Kulle Alexandra, Karaca Züleyha, Akkurt Ilker, Kurtoglu Selim, Kelestimur Fahrettin, Grötzinger Joachim, Holterhus Paul-Martin, Riepe Felix G

Abstract excerpt

BACKGROUND: Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine diseases. Steroid 11β-hydroxylase (P450c11) deficiency (11OHD) is the second most common form of CAH. AIM: The aim of the study was to study the functional consequences of three novel CYP11B1 gene mutations (p.His125Thrfs*8, p.Leu463_Leu464dup and p.Ser150Leu) detected in patients suffering from...

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PMID: 24536089
DOI: 10.1530/EJE-13-0737

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