Use of PCR for the determination of the frequency of the deltaF508 mutation in Brasilian cistic fibrosis patients
Data(s) |
01/06/1993
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Resumo |
The [Delta]F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion |
Formato |
text/html |
Identificador |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0074-02761993000200022 |
Idioma(s) |
en |
Publicador |
Instituto Oswaldo Cruz, Ministério da Saúde |
Fonte |
Memórias do Instituto Oswaldo Cruz v.88 n.2 1993 |
Palavras-Chave | #cystic fibrosis #PCR #[Delta]F508 #diagnosis |
Tipo |
journal article |