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Alteration of CFTR transmembrane span integration by disease-causing mutations

Many missense mutations in the cystic fibrosis transmembrane conductance regulator protein (CFTR) result in its misfolding, endoplasmic reticulum (ER) accumulation, and, thus, cystic fibrosis. A number of these mutations are located in the predicted CFTR transmembrane (TM) spans and have been projec...

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Detalles Bibliográficos
Autores principales: Patrick, Anna E., Karamyshev, Andrey L., Millen, Linda, Thomas, Philip J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226467/
https://www.ncbi.nlm.nih.gov/pubmed/21998193
http://dx.doi.org/10.1091/mbc.E11-05-0396