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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0030705,
umls-concept:C0152035,
umls-concept:C0205422,
umls-concept:C0242422,
umls-concept:C0796357,
umls-concept:C1422771,
umls-concept:C1424222,
umls-concept:C1843571,
umls-concept:C1850419,
umls-concept:C1970036
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pubmed:issue |
7
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|
pubmed:dateCreated |
2010-6-28
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|
pubmed:abstractText |
Early onset parkinsonism (EOP) has been associated with mutations in the Parkin, PINK1, and DJ-1 genes. We studied the prevalence of mutations in all three genes in 127 unrelated Chinese patients with apparently sporadic EOP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 16 patients (12.6%) with mutations of Parkin gene, four patients (3.1%) with mutations of PINK1 gene, and three patients (2.4%) with mutation of DJ-1 gene. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with sporadic EOP. Mutations of DJ-1 and PINK1 gene are also found in Chinese patients with sporadic EOP.
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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
|
|
pubmed:month |
Jul
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pubmed:issn |
1432-1459
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pubmed:author |
|
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pubmed:issnType |
Electronic
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pubmed:volume |
257
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1170-5
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pubmed:meshHeading |
pubmed-meshheading:20146068-Adult,
pubmed-meshheading:20146068-Asian Continental Ancestry Group,
pubmed-meshheading:20146068-China,
pubmed-meshheading:20146068-DNA Mutational Analysis,
pubmed-meshheading:20146068-Female,
pubmed-meshheading:20146068-Genetic Markers,
pubmed-meshheading:20146068-Genetic Predisposition to Disease,
pubmed-meshheading:20146068-Genetic Testing,
pubmed-meshheading:20146068-Genotype,
pubmed-meshheading:20146068-Humans,
pubmed-meshheading:20146068-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:20146068-Male,
pubmed-meshheading:20146068-Middle Aged,
pubmed-meshheading:20146068-Mutation,
pubmed-meshheading:20146068-Oncogene Proteins,
pubmed-meshheading:20146068-Parkinson Disease,
pubmed-meshheading:20146068-Protein Kinases,
pubmed-meshheading:20146068-Ubiquitin-Protein Ligases,
pubmed-meshheading:20146068-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism.
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pubmed:affiliation |
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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