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.

doi:10.1016/j.jcf.2007.03.006

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Article

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.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2008

Raskin Salmo, Pereira-Ferrari Lilian, Reis Francisco Caldeira, Abreu Fernando, Marostica Paulo, Rozov Tatiana, Cardieri Joselina, Ludwig Norberto, Valentin Lairton, Rosario-Filho Nelson Augusto, Camargo Neto Eurico, Lewis Eduardo, Giugliani Roberto, Diniz Edna Maria Albuquerque, Culpi Lodercio, Phillip John Atlas, Chakraborty Ranajit

Abstract excerpt

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 conductance regulator (CFTR) gene is a deletion (p.F508del) of the phenylalanine codon 508; its frequency, however, is not the same throughout the world. The purpose...

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PMID: 17544945
DOI: 10.1016/j.jcf.2007.03.006

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