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Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

Jin He Han Lin Jin-Jing Li Hui-Zhen Su Dan-Ni Wang Yu Lin Ning Wang Wan-Jin Chen

中华医学杂志（英文版）2018，Vol.131Issue(13)：1575-1583,9.

中华医学杂志（英文版）2018，Vol.131Issue(13)：1575-1583,9.DOI:10.4103/0366-6999.235113

Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure

Jin He ¹Han Lin ¹Jin-Jing Li ¹Hui-Zhen Su ¹Dan-Ni Wang ¹Yu Lin ¹Ning Wang ²Wan-Jin Chen¹

作者信息

1. Department of Neurology and Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China
2. Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, Fujian 350005, China
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摘要

关键词

Progressive Myoclonus Epilepsies/Progressive Myoclonus Epilepsy with or without Renal Failure/SCARB2 Gene/Targeted Next-Generation Sequencing

Key words

Progressive Myoclonus Epilepsies/Progressive Myoclonus Epilepsy with or without Renal Failure/SCARB2 Gene/Targeted Next-Generation Sequencing

引用本文复制引用

Jin He,Han Lin,Jin-Jing Li,Hui-Zhen Su,Dan-Ni Wang,Yu Lin,Ning Wang,Wan-Jin Chen..Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure[J].中华医学杂志（英文版）,2018,131(13):1575-1583,9.

基金项目

This work was supported by the grants from the National Natural Science Foundation of China (No.U1505222,No.81322017,No.81500980,and No.81571100) and the National Key Clinical Specialty Discipline Construction Program and Key Clinical Specialty Discipline Construction Program of Fujian. （No.U1505222,No.81322017,No.81500980,and No.81571100）

中华医学杂志（英文版）

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ISSN：0366-6999

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