Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11133| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Violeta Anastasovska | en_US |
| dc.contributor.author | Mirjana Kocova | en_US |
| dc.date.accessioned | 2021-03-22T10:56:36Z | - |
| dc.date.available | 2021-03-22T10:56:36Z | - |
| dc.date.issued | 2010-09 | - |
| dc.identifier.issn | 0334-018X | - |
| dc.identifier.uri | http://hdl.handle.net/20.500.12188/11133 | - |
| dc.description.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. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Walter de Gruyter GmbH | en_US |
| dc.relation.ispartof | Journal of Pediatric Endocrinology and Metabolism | en_US |
| dc.title | Genotype-phenotype correlation in CAH patients with severe CYP21A2 point mutations in the Republic of Macedonia | en_US |
| dc.type | Article | en_US |
| dc.identifier.doi | 10.1515/jpem.2010.147 | - |
| dc.identifier.url | https://www.degruyter.com/view/j/jpem.2010.23.issue-9/jpem.2010.147/jpem.2010.147.pdf | - |
| dc.identifier.volume | 23 | - |
| dc.identifier.issue | 9 | - |
| item.grantfulltext | none | - |
| item.fulltext | No Fulltext | - |
| crisitem.author.dept | Faculty of Medicine | - |
| crisitem.author.dept | Faculty of Medicine | - |
| Appears in Collections: | Faculty of Medicine: Journal Articles | |
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