Targeted next-generation sequencing identified a known EMD mutation in a Chinese patient with Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a rare X-linked recessive disease characterized by the clinical triad of early childhood joint contractures, progressive weakness in muscles and cardiac involvement and can result in sudden death. Targeted next-generation sequencing was performed for a Chi...

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Veröffentlicht in:	Human genome variation 2019-09, Vol.6 (1), p.42-42, Article 42
Hauptverfasser:	Dai, Xiafei, Zheng, Chenqing, Chen, Xuepin, Tang, Yibin, Zhang, Hongmei, Yan, Chao, Ma, Huihui, Li, Xiaoping
Format:	Artikel
Sprache:	eng
Schlagworte:	631/208/726/649/2219 692/699/75 Biomedical and Life Sciences Biomedicine Data Report Gene Expression Gene Function Gene Therapy Human Genetics Molecular Medicine Muscular dystrophy
Online-Zugang:	Volltext
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