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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2007-9-25
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pubmed:abstractText |
Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations. Recently, the FRMD7 gene mutation has been identified as the genetic cause of CMN. The purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1090-0535
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pubmed:author |
pubmed-author:AHH,
pubmed-author:DingMeipingM,
pubmed-author:HuZhengmaoZ,
pubmed-author:LiQianQ,
pubmed-author:LiuZhirongZ,
pubmed-author:LuoWeiW,
pubmed-author:ShiS MSM,
pubmed-author:SongFeiF,
pubmed-author:TianJunJ,
pubmed-author:XiaJiahuiJ,
pubmed-author:XuShanhuS,
pubmed-author:YinJinfuJ,
pubmed-author:YinXinzhenX,
pubmed-author:ZhangBaorongB,
pubmed-author:ZhaoGuohuaG
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pubmed:issnType |
Electronic
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1674-9
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17893669-Asian Continental Ancestry Group,
pubmed-meshheading:17893669-Codon, Nonsense,
pubmed-meshheading:17893669-Cytosine,
pubmed-meshheading:17893669-Cytoskeletal Proteins,
pubmed-meshheading:17893669-Female,
pubmed-meshheading:17893669-Genetic Diseases, X-Linked,
pubmed-meshheading:17893669-Genetic Linkage,
pubmed-meshheading:17893669-Guanine,
pubmed-meshheading:17893669-Haplotypes,
pubmed-meshheading:17893669-Humans,
pubmed-meshheading:17893669-Lod Score,
pubmed-meshheading:17893669-Male,
pubmed-meshheading:17893669-Membrane Proteins,
pubmed-meshheading:17893669-Mutation,
pubmed-meshheading:17893669-Mutation, Missense,
pubmed-meshheading:17893669-Nystagmus, Congenital,
pubmed-meshheading:17893669-Pedigree
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pubmed:year |
2007
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pubmed:articleTitle |
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
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pubmed:affiliation |
Department of Neurology, Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, China. brzhang@zju.edu.cn
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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