Cystic fibrosis transmembrane conductance regulator mutations that disrupt nucleotide binding.

Increasing evidence suggests heterogeneity in the molecular pathogenesis of cystic fibrosis (CF). Mutations such as deletion of phenylalanine at position 508 (delta F508) within the cystic fibrosis transmembrane conductance regulator (CFTR), for example, appear to cause disease by abrogating normal...

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Detalhes bibliográficos
Main Authors: Logan, J, Hiestand, D, Daram, P, Huang, Z, Muccio, D D, Hartman, J, Haley, B, Cook, W J, Sorscher, E J
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC296301/
https://ncbi.nlm.nih.gov/pubmed/7518829
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