Sylvia Schucht Rebecca Minso Christiane Lex Jochen Reiss Frauke Stanke Stephanie Tamm Andrea van Barneveld Burkhard Tümmler
10.1002/mgg3.526
Mol Genet Genomic Med
2019 Feb;7(2):e00526.
cftr bioassay cftr immunoblot complex allele cystic fibrosis intestinal current measurement
CC BY
https://pubmed.ncbi.nlm.nih.gov/30600599/
Action Potentials Colon / metabolism Cystic Fibrosis Transmembrane Conductance Regulator / metabolism Phenotype
Action Potentials Colon / metabolism Cystic Fibrosis Transmembrane Conductance Regulator / metabolism Phenotype Case Reports Research Support, Non-U.S. Gov't Cell Line Cells, Cultured Child Chlorides / metabolism Colon / cytology Colon / physiology Cystic Fibrosis Transmembrane Conductance Regulator / genetics Humans Intestinal Mucosa / metabolism Intestinal Mucosa / physiology Ion Transport Male Mutation, Missense Chlorides cystic fibrosis transmembrane conductance regulator delta F508 Cystic Fibrosis Transmembrane Conductance Regulator
PMC6393651
30600599
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon
2019