Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects

We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro) CYP21A2 mutations. Functional analyses were complemented with...

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Detalles Bibliográficos
Autores principales: de Paula Michelatto, Débora, Karlsson, Leif, Lusa, Ana Letícia Gori, Silva, Camila D'Almeida Mgnani, Östberg, Linus Joakim, Persson, Bengt, Guerra-Júnior, Gil, de Lemos-Marini, Sofia Helena Valente, Barbaro, Michela, de Mello, Maricilda Palandi, Lajic, Svetlana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046037/
https://www.ncbi.nlm.nih.gov/pubmed/27721825
http://dx.doi.org/10.1155/2016/4209670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5046037/
https://www.ncbi.nlm.nih.gov/pubmed/27721825
http://dx.doi.org/10.1155/2016/4209670

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