Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients

Autor: Norberto Ludwig, Eurico Camargo Neto, Ranajit Chakraborty, Roberto Giugliani, Fernando Abreu, Eduardo Lewis, Lodercio Culpi, Lairton Valentin, Salmo Raskin, Lilian Pereira-Ferrari, John Atlas Phillip, Edna Maria de Albuquerque Diniz, Francisco J.C. Reis, Tatiana Rozov, Nelson Augusto Rosario-Filho, Paulo José Cauduro Marostica, Joselina Magalhaes Andrade Cardieri

Publikováno v: Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Cystic Fibrosis (CF) is one of the most common single-gene defects in European descent populations with an incidence of about 1 in every 2500 live births and carrier frequency of approximately 1 in 25. The most common mutation at the CF transmembrane

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4fb68dc8109604802a663fdf022ea96
https://doi.org/10.1016/j.jcf.2007.03.006