Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing. (2014) Mutation Research
Identification of a novel GATA3 mutation in a deaf Taiwanese family by massively parallel sequencing. (2014) Mutation Research, IF=4.440 (台大醫院 陳沛隆醫師)

使用者陳沛隆醫師發表期刊論文,針對一個台灣的遺傳性聽力受損家族,進行次世代定序分析,發現一個在異質性遺傳聽力損傷未知的GATA3移碼(frameshift)突變,而且這個突變與甲狀旁線功能低下、神經性耳聾及腎發育不良綜合症(HDR syndrome)具有高度關聯性,此發現可做為未來早期檢測診斷相關疾病的途徑。(IF=4.440)





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