p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil
نویسندگان
چکیده
منابع مشابه
p.F508del in a heterogeneous cystic fibrosis population from Minas Gerais, Brazil.
Cystic fibrosis (CF) is the most common autosomal recessive disease of the Caucasian population. Among the various CF mutations, p.F508del is the most frequent, accounting for two-thirds of the global CF chromosomes, although showing great variability among populations. We have studied 115 unrelated CF patients from a mixed population of Minas Gerais (Brazil). To evaluate part of the DNA sequen...
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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, 3...
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ژورنال
عنوان ژورنال: Brazilian Journal of Medical and Biological Research
سال: 2008
ISSN: 0100-879X
DOI: 10.1590/s0100-879x2008000800001