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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Vydáno v:	Respiratory medicine Ročník 192; s. 106736
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England 01.02.2022
Témata:	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
On-line přístup:	Zjistit podrobnosti o přístupu
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