Article
A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.
Gene - 15 Jun 2018
Nozari Ahoura, Aghaei-Moghadam Ehsan, Zeinaloo Aliakbar, Mollazadeh Reza, Majnoon Mohammad-Taghi, Alavi Afagh, Ghasemi Firouzabadi Saghar, Mohammadzadeh Akbar, Banihashemi Susan, Nikzaban Mehrnoush, Najmabadi Hossein, Behjati Farkhondeh
Abstract excerpt
Recent achievements in the genetic diagnosis of Dilated Cardiomyopathy (DCM) have disclosed rare variants in numerous genes encoding different types of myocardial proteins. However, the causative gene underlying the pathogenesis of about 60% of familial cases with DCM has not been identified. One novel gene introduced in 2016 for cardiac-restricted DCM is FLNC. In this study, we applied Whole Exome Sequencing...
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