Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease

被引：0
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作者：
Fujun Lin
Fan Bian
Jun Zou
Xiangru Wu
Jianping Shan
Wei Lu
Yao Yao
Gengru Jiang
Daniel Philip Gale
机构：
[1] School of Medicine,Department of Nephrology, Xin Hua Hospital
[2] Shanghai Jiao Tong University,Department of Pathology, Xin Hua Hospital
[3] UCL Centre for Nephrology,undefined
[4] Royal Free Hospital,undefined
[5] School of Medicine,undefined
[6] Shanghai Jiao Tong University,undefined
来源：
BMC Nephrology | / 15卷
关键词：
Collagen IV-related nephropathies; Whole exome sequencing; Novel mutation; Misdiagnosis;
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