Article
Elexacaftor-Tezacaftor-Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele.
The New England journal of medicine - 7 Nov 2019
Middleton Peter G, Mall Marcus A, Dřevínek Pavel, Lands Larry C, McKone Edward F, Polineni Deepika, Ramsey Bonnie W, Taylor-Cousar Jennifer L, Tullis Elizabeth, Vermeulen François, Marigowda Gautham, McKee Charlotte M, Moskowitz Samuel M, Nair Nitin, Savage Jessica, Simard Christopher, Tian Simon, Waltz David, Xuan Fengjuan, Rowe Steven M, Jain Raksha
Abstract excerpt
BACKGROUND: Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and nearly 90% of patients have at least one copy of the Phe508del CFTR mutation. In a phase 2 trial involving patients who were heterozygous for the Phe508del CFTR mutation and a minimal-function mutation (Phe508del-minimal function genotype), the next-generation CFTR...
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