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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Detalhes bibliográficos
Publicado no:JCI Insight
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2016
Assuntos:
Research Article
Acesso em linha: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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