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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 Tümmler
Published 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.
Keyphrases
  • cystic fibrosis
  • endothelial cells
  • induced pluripotent stem cells
  • protein protein
  • amino acid
  • fine needle aspiration
  • ultrasound guided