Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics.

08:00 EDT 20th May 2017 | BioPortfolio

Summary of "Comprehensive genetic study of cystic fibrosis in Slovak patients in 25 years of genetic diagnostics."

Cystic fibrosis (CF) has one of the longest histories in hereditary disease molecular diagnostics. However, identification of causative mutations in the CFTR gene is complicated by over two thousand currently identified mutations; with more still being discovered. Knowledge of mutation spectrum may improve effective routine diagnostics and is obligatory in mutation-specific treatment.


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This article was published in the following journal.

Name: The clinical respiratory journal
ISSN: 1752-699X


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Medical and Biotech [MESH] Definitions

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