F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients

(1) Background: many rare cystic fibrosis transmembrane conductance regulator (CFTR) mutations remain poorly characterized with regard to functional consequences of the mutation. We present the clinical features of two pediatric cystic fibrosis (CF) subjects who are heterozygous for F1099L (c.3297C&...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoying, Hothi, Jaspal S., Zhang, Yanhui H., Ren, Aixia, Rock, Michael J., Srinivasan, Saumini, Stokes, Dennis C., Naren, Anjaparavanda P., Zhang, Weiqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915716/
https://www.ncbi.nlm.nih.gov/pubmed/33567498
http://dx.doi.org/10.3390/life11020131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7915716/
https://www.ncbi.nlm.nih.gov/pubmed/33567498
http://dx.doi.org/10.3390/life11020131

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