First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

First Identification of Rare Exonic and Deep Intronic Splice-Altering Variants in Patients With Beta-Sarcoglycanopathy

BackgroundThe precise genetic diagnosis of a sarcoglycanopathy or dystrophinopathy is sometimes extremely challenging, as pathogenic non-coding variants and/or complex structural variants do exist in DMD or sarcoglycan genes. This study aimed to determine the genetic diagnosis of three patients from...

Full description

Bibliographic Details
Main Authors: Zhiying Xie, Chengyue Sun, Chang Liu, Xujun Chu, Qiang Gang, Meng Yu, Yiming Zheng, Lingchao Meng, Fan Li, Dongliang Xia, Li Wang, Ying Li, Jianwen Deng, He Lv, Zhaoxia Wang, Wei Zhang, Yun Yuan
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Pediatrics
Subjects:
SGCB
aberrant splicing
intron
splice-altering variants
diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.900280/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.900280/full

Similar Items