Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colon.
Sylvia SchuchtRebecca MinsoChristiane LexJochen ReissFrauke StankeStephanie TammAndrea van BarneveldBurkhard TümmlerPublished in: Molecular genetics & genomic medicine (2019)
The combined use of bioassay and protein analysis is particularly meaningful to resolve the CFTR phenotype of "indeterminate" borderline CFTR genotypes on a case-to-case basis.