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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2006-9-27
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pubmed:abstractText |
We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.
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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:month |
Sep
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pubmed:issn |
0885-3185
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pubmed:author |
pubmed-author:BernardiGiorgioG,
pubmed-author:HasegawaHiroshiH,
pubmed-author:KanekoSatoshiS,
pubmed-author:KawaraiToshitakaT,
pubmed-author:LiangYanY,
pubmed-author:OrlacchioAntonioA,
pubmed-author:RogaevaEkaterinaE,
pubmed-author:Salehi-RadShabnamS,
pubmed-author:SatoChristineC,
pubmed-author:St George-HyslopPeterP,
pubmed-author:YipEdwinE
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pubmed:copyrightInfo |
(c) 2006 Movement Disorder Society.
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pubmed:issnType |
Print
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pubmed:volume |
21
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1531-3
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pubmed:meshHeading |
pubmed-meshheading:16795073-Adult,
pubmed-meshheading:16795073-Alleles,
pubmed-meshheading:16795073-Amino Acid Substitution,
pubmed-meshheading:16795073-DNA Mutational Analysis,
pubmed-meshheading:16795073-Heterozygote Detection,
pubmed-meshheading:16795073-Humans,
pubmed-meshheading:16795073-Male,
pubmed-meshheading:16795073-Membrane Proteins,
pubmed-meshheading:16795073-Neurologic Examination,
pubmed-meshheading:16795073-Polymerase Chain Reaction,
pubmed-meshheading:16795073-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:16795073-Protein Structure, Secondary,
pubmed-meshheading:16795073-Protein Structure, Tertiary,
pubmed-meshheading:16795073-Spastic Paraplegia, Hereditary
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pubmed:year |
2006
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pubmed:articleTitle |
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
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pubmed:affiliation |
Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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