Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia

Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute to the most common form of CAH. However, pseud...

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Detalles Bibliográficos
Autores principales: Ravichandran, Lavanya, Varghese, Deny, R, Parthiban, S, Asha H., Korula, Sophy, Thomas, Nihal, Chapla, Aaron
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Protocol Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213767/
https://www.ncbi.nlm.nih.gov/pubmed/35756349
http://dx.doi.org/10.1016/j.mex.2022.101748

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