Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
Identifieur interne : 001201 ( PubMed/Checkpoint ); précédent : 001200; suivant : 001202Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.
Auteurs : Li Cao ; Qing-Zhou Fei ; Wei-Guo Tang ; Jian-Rong Liu ; Lan Zheng ; Qin Xiao ; Song-Bin He ; Yi Fu ; Sheng-Di ChenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : RNA Splice Sites, Steroid Hydroxylases.
- genetics : Spastic Paraplegia, Hereditary.
- Adolescent, Adult, Female, Humans, Male, Mutation, Missense, Pedigree, Young Adult.
DOI: 10.1002/mds.23466
PubMed: 21452256
Affiliations:
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pubmed:21452256Le document en format XML
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<author><name sortKey="Fei, Qing Zhou" sort="Fei, Qing Zhou" uniqKey="Fei Q" first="Qing-Zhou" last="Fei">Qing-Zhou Fei</name>
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<author><name sortKey="Tang, Wei Guo" sort="Tang, Wei Guo" uniqKey="Tang W" first="Wei-Guo" last="Tang">Wei-Guo Tang</name>
</author>
<author><name sortKey="Liu, Jian Rong" sort="Liu, Jian Rong" uniqKey="Liu J" first="Jian-Rong" last="Liu">Jian-Rong Liu</name>
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<author><name sortKey="Zheng, Lan" sort="Zheng, Lan" uniqKey="Zheng L" first="Lan" last="Zheng">Lan Zheng</name>
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<author><name sortKey="Xiao, Qin" sort="Xiao, Qin" uniqKey="Xiao Q" first="Qin" last="Xiao">Qin Xiao</name>
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<author><name sortKey="He, Song Bin" sort="He, Song Bin" uniqKey="He S" first="Song-Bin" last="He">Song-Bin He</name>
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<author><name sortKey="Fu, Yi" sort="Fu, Yi" uniqKey="Fu Y" first="Yi" last="Fu">Yi Fu</name>
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<author><name sortKey="Chen, Sheng Di" sort="Chen, Sheng Di" uniqKey="Chen S" first="Sheng-Di" last="Chen">Sheng-Di Chen</name>
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<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>RNA Splice Sites (genetics)</term>
<term>Spastic Paraplegia, Hereditary (genetics)</term>
<term>Steroid Hydroxylases (genetics)</term>
<term>Young Adult</term>
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<term>Female</term>
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<Issue>7</Issue>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
<ISOAbbreviation>Mov. Disord.</ISOAbbreviation>
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<ArticleTitle>Novel mutations in the CYP7B1 gene cause hereditary spastic paraplegia.</ArticleTitle>
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<name sortKey="Chen, Sheng Di" sort="Chen, Sheng Di" uniqKey="Chen S" first="Sheng-Di" last="Chen">Sheng-Di Chen</name>
<name sortKey="Fei, Qing Zhou" sort="Fei, Qing Zhou" uniqKey="Fei Q" first="Qing-Zhou" last="Fei">Qing-Zhou Fei</name>
<name sortKey="Fu, Yi" sort="Fu, Yi" uniqKey="Fu Y" first="Yi" last="Fu">Yi Fu</name>
<name sortKey="He, Song Bin" sort="He, Song Bin" uniqKey="He S" first="Song-Bin" last="He">Song-Bin He</name>
<name sortKey="Liu, Jian Rong" sort="Liu, Jian Rong" uniqKey="Liu J" first="Jian-Rong" last="Liu">Jian-Rong Liu</name>
<name sortKey="Tang, Wei Guo" sort="Tang, Wei Guo" uniqKey="Tang W" first="Wei-Guo" last="Tang">Wei-Guo Tang</name>
<name sortKey="Xiao, Qin" sort="Xiao, Qin" uniqKey="Xiao Q" first="Qin" last="Xiao">Qin Xiao</name>
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