The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations

Cystic fibrosis (CF) remains the most lethal genetic disease in the Caucasian population. However, there is great variability in clinical phenotypes and survival times, even among patients harboring the same genotype. We identified five patients with CF and a homozygous F508del mutation in the CFTR...

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發表在:Am J Respir Cell Mol Biol
Main Authors: Agrawal, Pankaj B., Wang, Ruobing, Li, Hongmei Lisa, Schmitz-Abe, Klaus, Simone-Roach, Chantelle, Chen, Jingxin, Shi, Jiahai, Louie, Tin, Sheng, Shaohu, Towne, Meghan C., Brainson, Christine F., Matthay, Michael A., Kim, Carla F., Bamshad, Michael, Emond, Mary J., Gerard, Norma P., Kleyman, Thomas R., Gerard, Craig
格式: Artigo
語言:Inglês
出版: American Thoracic Society 2017
主題:
Original Research
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5765421/
https://ncbi.nlm.nih.gov/pubmed/28708422
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2017-0166OC
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