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...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Siberian State Medical University (Tomsk)
2024-07-01
|
| Series: | Бюллетень сибирской медицины |
| Subjects: | |
| Online Access: | https://bulletin.ssmu.ru/jour/article/view/5675 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Be the first to leave a comment!