Structure-Based Analysis of Five Novel Disease-Causing Mutations in 21-Hydroxylase-Deficient Patients

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. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nucleotide sequence identity CYP21A1P pseudogene, on...

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Detalles Bibliográficos
Autores principales: Minutolo, Carolina, Nadra, Alejandro D., Fernández, Cecilia, Taboas, Melisa, Buzzalino, Noemí, Casali, Bárbara, Belli, Susana, Charreau, Eduardo H., Alba, Liliana, Dain, Liliana
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019215/
https://www.ncbi.nlm.nih.gov/pubmed/21264314
http://dx.doi.org/10.1371/journal.pone.0015899

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