Article
Frequency of 8 CFTR gene mutations in cystic fibrosis patients in Minas Gerais, Brazil, diagnosed by neonatal screening.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Feb 2010
Perone C, Medeiros G S, del Castillo D M, de Aguiar M J B, Januário J N
Abstract excerpt
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 study was to analyze the frequency of 8 mutations (F508del, G542X, R1162X, N1303K, W1282X, G85E, 3120+1G>A, and...
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