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http://hdl.handle.net/20.500.12188/11133| Title: | Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia | Authors: | Violeta Anastasovska Mirjana Kocova |
Issue Date: | Sep-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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