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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. (2015) PLOS One
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Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease. (2015) PLOS One, IF=3.534 (陽明大學 黃彥華教授)
 
使用者黃彥華教授發表期刊論文,已知GARS基因可能是造成第二D型早發性腓骨肌萎縮症或遠端脊肌萎縮症第五型的原因之一,而在過去在台灣,對於次項疾病的患者,並不清楚在GARS基因上有怎樣的變化。在本研究中,透過次世代定序方式,在台灣的兩個病患身上找到在GARS上兩個鄉的突變導致早發性腓骨肌萎縮症。這項研究將揭開台灣特有的突變型式,將對早發性腓骨肌萎縮疾病有進一步的了解。 
  

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