Article
Prevalence of Titin Truncating Variants in General Population.
PloS one - 1 Jan 2015
Akinrinade Oyediran, Koskenvuo Juha W, Alastalo Tero-Pekka
Abstract excerpt
BACKGROUND: Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out systematic analyses of TTN truncating variants (TTNtv) in publicly available reference populations, including, for the first time, data...
Topics
- Cardiomyopathy, Dilated
- Connectin
- DNA Mutational Analysis
- Databases, Genetic
- Genetic Variation
- Humans
- Polymorphism, Single Nucleotide
- Prevalence
- Sequence Analysis, DNA