Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12188/11132| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Anastasovska Violeta | en_US |
| dc.contributor.author | Kocova Mirjana | en_US |
| dc.date.accessioned | 2021-03-22T10:54:59Z | - |
| dc.date.available | 2021-03-22T10:54:59Z | - |
| dc.date.issued | 2010 | - |
| dc.identifier.issn | 0351-3254 | - |
| dc.identifier.uri | http://hdl.handle.net/20.500.12188/11132 | - |
| dc.description.abstract | Deficiency of 21-hydroxylase is present in 90-95% cases of congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. Eleven common pseudogene-derived mutations account for approximately 95% of all affected CYP21A2 alleles in all three clinical forms of the disease. | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | Macedonian Academy of Sciences and Arts | en_US |
| dc.relation.ispartof | Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) | en_US |
| dc.title | Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives | en_US |
| dc.title.alternative | Детектирани хетерозиготи во текот на молекуларната анализа на чести CYP21A2 точкести мутации кај македонски пациенти со конгенитална адренална хиперплазија и нивни роднини | en_US |
| dc.type | Article | en_US |
| dc.identifier.volume | 31 | - |
| dc.identifier.issue | 2 | - |
| item.fulltext | No Fulltext | - |
| item.grantfulltext | none | - |
| crisitem.author.dept | Faculty of Medicine | - |
| crisitem.author.dept | Faculty of Medicine | - |
| Appears in Collections: | Faculty of Medicine: Journal Articles | |
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