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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Autores principales: Logan, J, Hiestand, D, Daram, P, Huang, Z, Muccio, D D, Hartman, J, Haley, B, Cook, W J, Sorscher, E J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1994
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC296301/
https://ncbi.nlm.nih.gov/pubmed/7518829
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