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 |
推荐引用方式 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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