Article
Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.
Gene - 30 Jun 2023
Santos Luana Gavioli, Pereira Stéphanie Villa-Nova, Kmit Arthur Henrique Pezzo, Bonadia Luciana Cardoso, Bertuzzo Carmen Sílvia, Ribeiro José Dirceu, Mazzola Taís Nitsch, Marson Fernando Augusto Lima
Abstract excerpt
BACKGROUND: Since patients with cystic fibrosis with different Cystic Fibrosis Transmembrane Regulator (CFTR) genotypes present a wide response variability for modulator drugs such as Orkambi®, it is important to screen variants in candidate genes with an impact on precision and personalized medicine, such as Solute Carrier Family 26, member 9 (SLC26A9) gene. METHODS: Sanger sequencing for the exons and...
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