Unexpectedly high mutation rate of cyp11b1 compared to cyp21a2 in randomly-selected turkish women: a large screening study
Author:
Funder
Bilimsel Araştırma Projeleri, Erciyes Üniversitesi
Publisher
Springer Science and Business Media LLC
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism
Link
https://link.springer.com/content/pdf/10.1007/s40618-023-02093-5.pdf
Reference46 articles.
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2. New MI (2001) Prenatal treatment of congenital adrenal hyperplasia: the United States experience. Endocrinol Metab Clin N Am 30:1–13
3. Miller WL, Auchus RJ (2011) The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders. Endocr Rev 32:81–151. https://doi.org/10.1210/er.2010-0013
4. Kelestimur F (2006) Non-classic congenital adrenal hyperplasia. Pediatr Endocrinol Rev 3:451–454
5. Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grötzinger J, Holterhus PM, Riepe FG (2014) Characterisation of three novel CYP11B1 mutations in classic and non-classic 11beta-hydroxylase deficiency. Eur J Endocrinol 170:697–706. https://doi.org/10.1530/EJE-13-0737
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1. Landscape of congenital adrenal hyperplasia cases in adult endocrinology clinics of Türkiye-a nation-wide multicentre study;Endocrine;2024-04-08
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