Functional studies of rare missense mutations in CFTR facilitate interpretation of genotype-phenotype relationships

We have been investigating the functional consequences of rare disease-associated amino acid substitutions in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Mutations of the arginine residue at codon 1070 have been associated with different disease consequences R1070P and R1070Q hav...

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Bibliographic Details
Main Authors: Krasnov, Kristina V., Tzetis, Maria, Cheng, Jie, Guggino, William B., Cutting, Garry R.
Format: Artigo
Language:Inglês
Published: 2008
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2785447/
https://ncbi.nlm.nih.gov/pubmed/18951463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20866
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