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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2008-6-26
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pubmed:abstractText |
Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the alpha-synuclein gene (SNCA).
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pubmed:grant |
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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 |
Jun
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pubmed:issn |
1531-8249
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pubmed:author |
pubmed-author:AdlerCharles HCH,
pubmed-author:BraithwaiteAdam TAT,
pubmed-author:Chartier-HarlinMarie-ChristineMC,
pubmed-author:FarrerMatthew JMJ,
pubmed-author:FuchsJuliaJ,
pubmed-author:GasserThomasT,
pubmed-author:GwinnKatrinaK,
pubmed-author:HattoriNobutakaN,
pubmed-author:HulihanMary MMM,
pubmed-author:KachergusJenniferJ,
pubmed-author:LangstonJ WilliamJW,
pubmed-author:LarvorLydieL,
pubmed-author:MaraganoreDemetrius MDM,
pubmed-author:MiddletonFrank AFA,
pubmed-author:NilssonChristerC,
pubmed-author:NishiokaKenyaK,
pubmed-author:RossOwen AOA,
pubmed-author:SkipperLisa MLM
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pubmed:issnType |
Electronic
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
743-50
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pubmed:dateRevised |
2011-9-22
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pubmed:meshHeading |
pubmed-meshheading:18571778-Adult,
pubmed-meshheading:18571778-Aged,
pubmed-meshheading:18571778-Chromosomes, Human, Pair 4,
pubmed-meshheading:18571778-DNA Mutational Analysis,
pubmed-meshheading:18571778-Female,
pubmed-meshheading:18571778-Gene Dosage,
pubmed-meshheading:18571778-Gene Duplication,
pubmed-meshheading:18571778-Genetic Predisposition to Disease,
pubmed-meshheading:18571778-Genetic Testing,
pubmed-meshheading:18571778-Genome,
pubmed-meshheading:18571778-Humans,
pubmed-meshheading:18571778-Male,
pubmed-meshheading:18571778-Microsatellite Repeats,
pubmed-meshheading:18571778-Middle Aged,
pubmed-meshheading:18571778-Parkinson Disease,
pubmed-meshheading:18571778-Polymorphism, Single Nucleotide,
pubmed-meshheading:18571778-Recombination, Genetic,
pubmed-meshheading:18571778-alpha-Synuclein
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pubmed:year |
2008
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pubmed:articleTitle |
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
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pubmed:affiliation |
Division of Neurogenetics, Department of Neuroscience, College of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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