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Article

Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

1 Jul 2014

Abstract excerpt

The mechanisms responsible for the determination of phenotypes are still not well understood; however, it has become apparent that modifier genes must play a considerable role in the phenotypic heterogeneity of Mendelian disorders. Significant advances in genetic technologies and molecular medicine allow huge amounts of information to be generated from individual samples within a reasonable time frame. This...

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PMID: 25053892
DOI: 10.2147/tacg.s18675

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