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Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

08:00 EDT 2nd April 2019 | BioPortfolio

Summary of "Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul."

Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University.

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This article was published in the following journal.

Name: Pediatric pulmonology
ISSN: 1099-0496
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