Articles with "allele l467f" as a keyword



Personalized Selection of a CFTR Modulator for a Patient with a Complex Allele [L467F;F508del]

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Published in 2022 at "Current Issues in Molecular Biology"

DOI: 10.3390/cimb44100349

Abstract: The presence of complex alleles in the CFTR gene can lead to difficulties in diagnosing cystic fibrosis and cause resistance to therapy with CFTR modulators. Tezacaftor/ivacaftor therapy for 8 months in a patient with the… read more here.

Keywords: allele l467f; cftr; tezacaftor ivacaftor; f508del ... See more keywords