Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

This study aimed to study the diagnostic value of targeted next-generation sequencing (NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational spectrum of Chinese LGMD patients. We performed targeted NGS covering 420 genes in 180 patients who were consecutively suspected of...

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Veröffentlicht in:	PloS one 2017-04, Vol.12 (4), p.e0175343-e0175343
Hauptverfasser:	Yu, Meng, Zheng, Yiming, Jin, Suqin, Gang, Qiang, Wang, Qingqing, Yu, Peng, Lv, He, Zhang, Wei, Yuan, Yun, Wang, Zhaoxia
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities Adolescent Adult Alignment Amplification Analysis Asian Continental Ancestry Group - genetics Assembly Becker's muscular dystrophy Biology and life sciences Biopsy Brain Burrows C-Terminus Calpain Child Child, Preschool Chin China - epidemiology Clonal deletion Coding Creatine Creatine kinase Data processing Defects Degeneration Deoxyribonucleic acid Desmin Diagnosis Disorders DNA DNA sequencing Dystrophin Dystrophy Exons Female Fibers Fibrosis Flow charts Gene mutation Genes Genetic aspects Genetic disorders Genetic screening Genetics Genomes Genomics Genotype Hereditary diseases Heterozygote High-Throughput Nucleotide Sequencing Humans Jaw Male Medical diagnosis Medicine and Health Sciences Methods Multiplexing Muscle strength Muscles - pathology Muscular diseases Muscular Dystrophies, Limb-Girdle - diagnosis Muscular Dystrophies, Limb-Girdle - epidemiology Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular dystrophy Mutation Myopathy N-Terminus Neurodegeneration Neurology Pathogenesis Pathology Populations Proteins Research and analysis methods Risk factors Staining Storage Tissues Young Adult
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