Functional analysis of a new splicing mutation in the <em>MYBPC3</em> gene in hypertrophic cardiomyopathy

Functional analysis of a new splicing mutation in the <em>MYBPC3</em> gene in hypertrophic cardiomyopathy

Aim. To study the pathogenic effect in the MYBPC3 splice-site variant in the patient with hypertrophic cardiomyopathy. Materials and methods. The study was conducted using a DNA sample obtained from a patient with hypertrophic cardiomyopathy, in whom a previously undescribed variant was identified i...

Full description

Saved in:
Bibliographic Details
Main Authors: R. R. Salakhov, M. V. Golubenko, M. Y. Skoblov, R. R. Savchenko, N. R. Valiakhmetov, E. N. Pavlyukova, M. S. Nazarenko
Format: Article
Language:English
Published: Siberian State Medical University (Tomsk) 2024-07-01
Series:Бюллетень сибирской медицины
Subjects:
hypertrophic cardiomyopathy
mybpc3
minigene
splicing
Online Access:https://bulletin.ssmu.ru/jour/article/view/5675
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items