A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

BACKGROUND: Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a nove...

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Detalles Bibliográficos
Autores principales: Dubey, Sudhisha, Idicula-Thomas, Susan, Anwaruddin, Mohammad, Saravanan, Chinnaraj, Varma, R Raveendra, Maitra, Anurupa
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653521/
https://www.ncbi.nlm.nih.gov/pubmed/19272182
http://dx.doi.org/10.1186/1423-0127-16-3

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