A novel ARSE mutation in a patient with chondrodysplasia punctata 1 and in his mother with low frequent somatic and/or germline mosaicism detected by deep sequencing using NGS
A novel ARSE mutation in a patient with chondrodysplasia punctata 1 and in his mother with low frequent somatic and/or germline mosaicism detected by deep sequencing using NGS
复制标题
使用 NGS 深度测序检测到 1 号点状软骨发育不良患者及其母亲的一种新的 ASS 突变，该患者具有低频率的体细胞和/或种系嵌合体
DOI：
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发表时间：
2013
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影响因子：
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通讯作者：
Kaname T
中科院分区：
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作者：
垣田博樹;青山峰芳;加藤晋;浅井隼人;長屋嘉顕;齋藤伸治;浅井清文;鳥巣浩幸;Kaname T
