Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation

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. Study of European pwCF carrying A1006E mutation, included in the European CF Society Patient Reg...

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Bibliographic Details
Published in:	Respiratory medicine Vol. 192; p. 106736
Main Authors:	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
Format:	Journal Article
Language:	English
Published:	England 01.02.2022
Subjects:	Adult Cystic Fibrosis - diagnosis Cystic Fibrosis - epidemiology Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Female Homozygote Humans Male Mutation - genetics Phenotype Cystic fibrosis Genotype Phenotype Missense mutation A1006E
ISSN:	1532-3064, 1532-3064
Online Access:	Get more information
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