A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series

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作者：
Jing Wu
Jun Zhang
Li Liu
Bo Zhang
Tomohiko Yamamura
Kandai Nozu
Masafumi Matsuo
Jinghong Zhao
机构：
[1] Army Medical University (Third Military Medical University),Department of Nephrology, the key Laboratory for the Prevention and Treatment of Chronic Kidney Disease of Chongqing, Kidney Center of PLA, Xinqiao Hospital
[2] Kobe University Graduate School of Medicine,Department of Pediatrics
[3] Kobe Gakuin University,Department of Physical Therapy, Faculty of Rehabilitation
来源：
BMC Nephrology | / 22卷
关键词：
Alport syndrome; COL4A5; Whole exome sequencing; Splicing error; Minegene assay;
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