Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease
Abstract Aims This study aimed to identify a novel splicing‐altering LAMP2 variant associated with Danon disease. Methods and results To identify the potential genetic mutation in a Chinese pedigree, whole‐exome sequencing was conducted in the proband, and Sanger sequencing was performed on the prob...
Guardado en:
| Autores principales: | , , , , |
|---|---|
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
2023-08-01
|
| Colección: | ESC Heart Failure |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1002/ehf2.14417 |
| Etiquetas: |
Sin Etiquetas, Sea el primero en etiquetar este registro!
|