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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-2-14
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pubmed:abstractText |
An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.
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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 |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
14
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
415-7
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:16476943-Adult,
pubmed-meshheading:16476943-Aged,
pubmed-meshheading:16476943-Aged, 80 and over,
pubmed-meshheading:16476943-Asparagine,
pubmed-meshheading:16476943-Case-Control Studies,
pubmed-meshheading:16476943-Female,
pubmed-meshheading:16476943-Gene Frequency,
pubmed-meshheading:16476943-Genetic Predisposition to Disease,
pubmed-meshheading:16476943-Glucosylceramidase,
pubmed-meshheading:16476943-Heterozygote,
pubmed-meshheading:16476943-Humans,
pubmed-meshheading:16476943-Leucine,
pubmed-meshheading:16476943-Male,
pubmed-meshheading:16476943-Middle Aged,
pubmed-meshheading:16476943-Mutation,
pubmed-meshheading:16476943-Parkinson Disease,
pubmed-meshheading:16476943-Proline,
pubmed-meshheading:16476943-Serine
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pubmed:year |
2006
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pubmed:articleTitle |
Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.
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pubmed:affiliation |
Department of Neuroscience, Norwegian University of Science and Technology, N-7489 Trondheim, Norway. mathias.toft@ntnu.no
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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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