rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
5
|
pubmed:dateCreated |
2002-7-11
|
pubmed:abstractText |
Early-onset parkinsonism is frequently reported in connection with mutations in the parkin gene. In this study, we present the results of extensive genetic screening for parkin mutations in 111 community-derived early-onset parkinsonism patients (age of onset <50 years) from Germany with an overall mutation rate of 9.0%. Gene dosage alterations represented 67% of the mutations found, underlining the importance of quantitative analyses of parkin. In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample.
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pubmed:grant |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
May
|
pubmed:issn |
0364-5134
|
pubmed:author |
pubmed-author:BreakefieldXandra OXO,
pubmed-author:GarrelsJenniferJ,
pubmed-author:HedrichKatjaK,
pubmed-author:JacobsHelfriedH,
pubmed-author:KannMartinM,
pubmed-author:KleinChristineC,
pubmed-author:MohrmannKathrinK,
pubmed-author:OzeliusLaurie JLJ,
pubmed-author:PramstallerPeter PPP,
pubmed-author:SchumacherKirstenK,
pubmed-author:SchwingerEberhardE,
pubmed-author:ViereggePeterP,
pubmed-author:WiegersKarinK
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pubmed:issnType |
Print
|
pubmed:volume |
51
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
621-5
|
pubmed:dateRevised |
2007-11-14
|
pubmed:meshHeading |
pubmed-meshheading:12112109-Adult,
pubmed-meshheading:12112109-Age of Onset,
pubmed-meshheading:12112109-Exons,
pubmed-meshheading:12112109-Female,
pubmed-meshheading:12112109-Humans,
pubmed-meshheading:12112109-Ligases,
pubmed-meshheading:12112109-Male,
pubmed-meshheading:12112109-Middle Aged,
pubmed-meshheading:12112109-Mutation,
pubmed-meshheading:12112109-Parkinsonian Disorders,
pubmed-meshheading:12112109-Residence Characteristics,
pubmed-meshheading:12112109-Ubiquitin-Protein Ligases
|
pubmed:year |
2002
|
pubmed:articleTitle |
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.
|
pubmed:affiliation |
Department of Neurology, Medical University of Lübeck, Lübeck, Germany.
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
|