目标外显子组捕获测序发现INPP5E突变致Joubert综合征1例
罗敏娜1刘志敏2沈玥1王昊2曹宗富1陈西华1马斯禹1,3高华方1
Identification one case with Joubert syndrome caused by INPP5E mutations by targetedexome sequencing
LUO Minna1, LIU Zhimin2，SHEN Yue1, WANG Hao2, CAO Zongfu1, CHEN Xihua1,MA Siyu1,3,GAO Huafang1, XU Baoping2, PENG Yun2, MA Xu1*
中国计划生育学杂志
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2018, (5): 400
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