Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening

The nature and frequency of cystic fibrosis mutations in Brazil is not uniform due to the highly varied ethnic composition of the population. The average frequency of the F508del mutation has been reported to be 48.6%. Other common mutations in Brazil are G542X, R1162X, and N1303K. The aim of this s...

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Bibliographic Details
Main Authors: C. Perone, G.S. Medeiros, D.M. del Castillo, M.J.B. de Aguiar, J.N. Januário
Format: Article
Language:English
Published: Associação Brasileira de Divulgação Científica 2010-02-01
Series:Brazilian Journal of Medical and Biological Research
Subjects:
CFTR gene
Cystic fibrosis
Mutations
Neonatal screening
F508del
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000200003

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2010000200003

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