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Molecular mechanisms of cystic fibrosis – how mutations lead to misfunction and guide therapy
Cystic fibrosis, the most common autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a cAMP-activated chloride and bicarbonate channel that regulates ion and water transport in secretory epithelia. A...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Portland Press Ltd.
2022
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9251585/ https://www.ncbi.nlm.nih.gov/pubmed/35707985 http://dx.doi.org/10.1042/BSR20212006 |