Functional Studies of p.R132C, p.R149C, p.M283V, p.E431K, and a Novel c.652-2A>G Mutations of the CYP21A2 Gene

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90–95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported point CYP21A2 mutations -p.R132C, p.R149C, p.M283V...

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Detalles Bibliográficos
Autores principales: Taboas, Melisa, Gómez Acuña, Luciana, Scaia, María Florencia, Bruque, Carlos D., Buzzalino, Noemí, Stivel, Mirta, Ceballos, Nora R., Dain, Liliana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965420/
https://www.ncbi.nlm.nih.gov/pubmed/24667412
http://dx.doi.org/10.1371/journal.pone.0092181

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965420/
https://www.ncbi.nlm.nih.gov/pubmed/24667412
http://dx.doi.org/10.1371/journal.pone.0092181

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