Ptt 大爆卦 | 無義突變 - 前往 https://dpt.cch.org.tw/upload/site_news/4614/361/%E5%BD%B0%E5%9F%BA%E7%BD%95%E7%97%85%E9%9B%BB%E5%AD%90%E5%A0%B1%20%E7%AC%AC%E5%8D%81%E4%BA%8C%E6%9C%9F-Carnitine%20deficiency%20syndrome,primary%20%E5%8E%9F%E7%99%BC%E6%80%A7%E8%82%89%E9%B9%BC%E7%BC%BA%E4%B9%8F%E7%97%87.pdf

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彰基原力醫學院(彰基罕見疾病委員會) / 澳亞醫學會罕病組週 ...

SLC22A5 基因上已發現上百種遺傳變異，超過八成都為單點突變(point mutations) [包括: 錯義突變. (missense mutation) 與無義突變(nonsense ...

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