Year: 2015
Type: Article
Title: Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency
Author: Anastasovska Violeta
Author: Milenković Tatjana
Author: Kocova Mirjana
Abstract: Steroid 21-hydroxylase deficiency is present in 90-95% of all cases with congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. It can present as the severe classical salt wasting (SW) or simple virilising (SV) form, or the milder, nonclassical form. Nine pseudogene-derived point mutations account for about 80% of all defects in the CYP21A2 gene coding the 21-hydroxylase enzyme.
Publisher: Society of Medical Biochemists of Serbia
Relation: Journal of Medical Biochemistry
Identifier: oai:repository.ukim.mk:20.500.12188/11122
Identifier: 1452-8258
Identifier: http://hdl.handle.net/20.500.12188/11122Identifier: 10.2478/jomb-2014-0048
Identifier: http://content.sciendo.com/view/journals/jomb/34/1/article-p52.xmlIdentifier: https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2015/1452-82581501052A.pdfIdentifier: 34
Identifier: 1
Identifier: 52
Identifier: 57
