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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2016
Предметы:
Articles
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы