Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease

Elevated sweat chloride levels, failure to thrive (FTT), and lung disease are characteristic features of cystic fibrosis (CF, OMIM #219700). Here we describe variants in CA12 encoding carbonic anhydrase XII in two pedigrees exhibiting CF-like phenotypes. Exome sequencing of a white American adult di...

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Publié dans:Hum Mol Genet
Auteurs principaux: Lee, Melissa, Vecchio-Pagán, Briana, Sharma, Neeraj, Waheed, Abdul, Li, Xiaopeng, Raraigh, Karen S., Robbins, Sarah, Han, Sangwoo T., Franca, Arianna L., Pellicore, Matthew J., Evans, Taylor A., Arcara, Kristin M., Nguyen, Hien, Luan, Shan, Belchis, Deborah, Hertecant, Jozef, Zabner, Joseph, Sly, William S., Cutting, Garry R.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5062583/
https://ncbi.nlm.nih.gov/pubmed/26911677
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw065
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