Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations in the DMD gene. The aim of this study is to identify pathogenic DMD variants in probands and reduce the risk of recurrence of the disease in affected families. Variations in 100 unrelated DMD/BMD patients...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:J Zhejiang Univ Sci B
Hauptverfasser: Yang, Yan-mei, Yan, Kai, Liu, Bei, Chen, Min, Wang, Li-ya, Huang, Ying-zhi, Qian, Ye-qing, Sun, Yi-xi, Li, Hong-ge, Dong, Min-yue
Format: Artigo
Sprache:Inglês
Veröffentlicht: Zhejiang University Press 2019
Schlagworte:
Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6700351/
https://ncbi.nlm.nih.gov/pubmed/31379145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1631/jzus.B1800541
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge