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Assessing the Disease-Liability of Mutations in CFTR

Over 1900 mutations have been reported in the cystic fibrosis transmembrane conductance regulator (CFTR), the gene defective in patients with cystic fibrosis. These mutations have been discovered primarily in individuals who have features consistent with the diagnosis of CF. In some cases, it has be...

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Autors principals: Ferec, Claude, Cutting, Garry R.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543074/
https://ncbi.nlm.nih.gov/pubmed/23209179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/cshperspect.a009480
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