Year: 2010
Type: Article
Title: Detected heterozygotes during the molecular analysis of the common CYP21A2 point mutations in Macedonian patients with congenital adrenal hyperplasia and their relatives
Author: Anastasovska Violeta
Author: Kocova Mirjana
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.
Publisher: Macedonian Academy of Sciences and Arts
Relation: Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
Identifier: oai:repository.ukim.mk:20.500.12188/11132
Identifier: 0351-3254
Identifier: http://hdl.handle.net/20.500.12188/11132Identifier: 31
Identifier: 2
