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http://hdl.handle.net/20.500.12188/11132| Title: | Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives | Other Titles: | Детектирани хетерозиготи во текот на молекуларната анализа на чести CYP21A2 точкести мутации кај македонски пациенти со конгенитална адренална хиперплазија и нивни роднини | Authors: | Anastasovska Violeta Kocova Mirjana |
Issue Date: | 2010 | Publisher: | Macedonian Academy of Sciences and Arts | Journal: | Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki) | 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. | URI: | http://hdl.handle.net/20.500.12188/11132 | ISSN: | 0351-3254 |
| Appears in Collections: | Faculty of Medicine: Journal Articles |
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