Analysis of cystic fibrosis–associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases

Emerging knowledge indicates the difficulty in categorizing unusual cystic fibrosis (CF) mutations, with regard to both pathogenic mechanism and theratype. As case in point, we present data concerning P67L mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), a defect carried b...

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Publicat a:JCI Insight
Autors principals: Sabusap, Carleen M., Wang, Wei, McNicholas, Carmel M., Chung, W. Joon, Fu, Lianwu, Wen, Hui, Mazur, Marina, Kirk, Kevin L., Collawn, James F., Hong, Jeong S., Sorscher, Eric J.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2016
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5029786/
https://ncbi.nlm.nih.gov/pubmed/27660821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.86581
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