Ве молиме користете го овој идентификатор да го цитирате или поврзете овој запис: http://hdl.handle.net/20.500.12188/11133
Наслов: Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia
Authors: Violeta Anastasovska 
Mirjana Kocova 
Issue Date: сеп-2010
Publisher: Walter de Gruyter GmbH
Journal: Journal of Pediatric Endocrinology and Metabolism
Abstract: Steroid 21-hydroxylase deficiency is a most frequent cause of congenital adrenal hyperplasia (CAH), due to mutations in the CYP21A2 gene. Approximately 75% of patients with classical form of CAH have severe impairment of 21-hydroxylase activity.
URI: http://hdl.handle.net/20.500.12188/11133
ISSN: 0334-018X
DOI: 10.1515/jpem.2010.147
Appears in Collections:Faculty of Medicine: Journal Articles

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