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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...

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Principais autores: Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng
פורמט: Artigo
שפה:Inglês
יצא לאור: Oxford University Press 2023-08-01
סדרה:ESC Heart Failure
נושאים:
Danon disease
LAMP2
Splicing mutation
Genetic diagnosis
Minigene assay
גישה מקוונת:https://doi.org/10.1002/ehf2.14417
תגים: הוספת תג
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