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Direct Molecular Diagnosis of CYP21A2 Point Mutations in Macedonian and Serbian Patients with 21-Hydroxylase Deficiency
BACKGROUND: 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-deriv...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Society of Medical Biochemists of Serbia
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922339/ https://www.ncbi.nlm.nih.gov/pubmed/28356824 http://dx.doi.org/10.2478/jomb-2014-0048 |