P078 Case report: elexacaftor/tezacaftor/ivacaftor as a game changer in an individual with CFTR class II mutation N1303k

Livia Gona-Hoepler,Eleonora Dehlink, N. Strasser,Edith Nachbaur,Saskia Gruber

Journal of Cystic Fibrosis（2023）

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摘要

Biochemical assays and single case reports show partial recovery of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) function in the class II mutation N1303K (p.Asn1303Lys, c.3909C >G) under triple combination with elexacaftor/tezacaftor/ivacaftor (ETI). However this therapy is not approved for patients carrying the mutation outside of heterozygosity with F508del.

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elexacaftor/tezacaftor/ivacaftor,elexacaftor/tezacaftor/ivacaftor,game changer,elexacaftor/tezacaftor/ivacaftor,cftr

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