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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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| Опубликовано в: : | Hum Mol Genet |
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| Главные авторы: | , , , , , , , , , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2016
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| Предметы: | |
| 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 |
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