Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and affects approximately 1 in 15,000 births in the United States. CAH is one of the disorders included on the Newborn Screening (NBS) Recommended Uniform Screening Panel. The commonly used immunological NBS test is associated w...

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Detalles Bibliográficos
Autores principales: Greene, Christopher N., Cordovado, Suzanne K., Turner, Daniel P., Keong, Lisa M., Shulman, Dorothy, Mueller, Patricia W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Newborn Screening
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121304/
https://www.ncbi.nlm.nih.gov/pubmed/27896104
http://dx.doi.org/10.1016/j.ymgmr.2014.07.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121304/
https://www.ncbi.nlm.nih.gov/pubmed/27896104
http://dx.doi.org/10.1016/j.ymgmr.2014.07.002

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