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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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Udgivet i:J Clin Invest
Principais autores: Logan, J, Hiestand, D, Daram, P, Huang, Z, Muccio, D D, Hartman, J, Haley, B, Cook, W J, Sorscher, E J
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 1994
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC296301/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7518829/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117311
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