Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Retrospective TREC testing of newborns with Severe Combined Immunodeficiency and other primary immunodeficiency diseases
por: Jilkina, O., et al.
Publicado: (2014) -
Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia
por: Chi, Dung V., et al.
Publicado: (2019) -
Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
por: Prado, Mayara J., et al.
Publicado: (2022) -
Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
por: Marumudi, Eunice, et al.
Publicado: (2012) -
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene
por: Rabbani, Bahareh, et al.
Publicado: (2011)