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...
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| Principais autores: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Siberian State Medical University (Tomsk)
2024-07-01
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| Series: | Бюллетень сибирской медицины |
| Assuntos: | |
| Acceso en liña: | https://bulletin.ssmu.ru/jour/article/view/5675 |
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