P078 Case report: elexacaftor/tezacaftor/ivacaftor as a game changer in an individual with CFTR class II mutation N1303k
Journal of Cystic Fibrosis(2023)
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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