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Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy
Libin Mei; Yanru Huang; Jing Chen; XueMei He; Shaobin Lin; Luying Liao; XiaoYan Wang; XianJing Huang; Yanwei Sha; Zhiyong Ji
刊名Clinica Chimica Acta
2019
关键词Progressive myoclonic epilepsies KCTD7 Compound heterozygous mutations Whole-exome sequencing
ISSN号0009-8981
URL标识查看原文
公开日期[db:dc_date_available]
内容类型期刊论文
URI标识http://www.corc.org.cn/handle/1471x/4611561
专题湖南大学
作者单位1.c Xiamen Key Laboratory of Reproduction and Genetics, China a Center for Reproductive Medicine, Women and Children's Hospital of Xiamen, Xiamen 361003, China
2.Genetics Laboratory, Maternal and Child Health Hospital of Xiamen, Xiamen 361003, China
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GB/T 7714
Libin Mei,Yanru Huang,Jing Chen,et al. Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy[J]. Clinica Chimica Acta,2019.
APA Libin Mei.,Yanru Huang.,Jing Chen.,XueMei He.,Shaobin Lin.,...&Ping Li.(2019).Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.Clinica Chimica Acta.
MLA Libin Mei,et al."Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy".Clinica Chimica Acta (2019).
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