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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
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 |
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