[Gene mutations; up date].

Abstract excerpt

The advance of sequencing technology, the exome analysis using next-generation sequencing (NGS), of the human genome has dramatically accelerated biomedical research and about 2,900 causative gene tests are now available. The discoveries of the causative genes for hereditary neurodegenerative diseases accelerated the studies on the pathophysiologic mechanisms of diseases and therapeutic strategies. Genome-wide...

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