Article
Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.
Respiratory medicine - 1 Feb 2022
Mondejar-Lopez Pedro, Zolin Anna, Garcia-Marcos Patricia W, Pastor-Vivero Mª Dolores, Rosa-Silvestre Maria, de Asis Sanchez-Martinez Francisco, Salvatore Donatello, Cimino Giuseppe, Majo Fabio, Sole-Jover Amparo, Asensio de la Cruz Oscar, Calderazzo Maria Adelaide, Pizzamiglio Giovanna, Castillo-Corullon Silvia, Alvarez-Fernandez Antonio, Gartner Silvia, Padoan Rita, Carnovale Vincenzo, Salvatore Marco, Moya-Quiles Mª Rosa, Orenti Annalisa, Glover Guillermo, Sanchez-Solis Manuel
Abstract excerpt
BACKGROUND: A1006E is a Cystic Fibrosis (CF) mutation that is still not widely known. We report phenotypic features and geographic distribution of the largest cohort of people with CF (pwCF) carrying A1006E to date. METHODS: Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Registry (ECFSPR). Genotype, ancestries and all variables recorded were compared to a cohort of...
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