Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease

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 proband...

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Detalles Bibliográficos
Autores principales: Fu, Di, Wang, Shuai, Luo, Yonghong, Wu, Sha, Peng, Daoquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375081/
https://www.ncbi.nlm.nih.gov/pubmed/37277924
http://dx.doi.org/10.1002/ehf2.14417

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10375081/
https://www.ncbi.nlm.nih.gov/pubmed/37277924
http://dx.doi.org/10.1002/ehf2.14417

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