Linked Life Data

19800393

Source:http://linkedlifedata.com/resource/pubmed/id/19800393

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-11-9
pubmed:abstractText
The results of mutation screening of 24 exons of LRRK2 in 60 Iranian Parkinson's Disease patients are presented. The Iranian cohort represents a novel population and was notably young (average age at onset of disease: 36.0 years). Fifty sequence variations were found, seventeen of which are novel. Variations considered possibly associated with disease were screened in available family members, 145 additional patients and 220 control individuals. It was surmised that four novel sequence variations (IVS49+178A>G, p.R1725Q, p.Q1823K, and p.D2175H) may be associated with PD status, albeit they may be very rare non-disease associated variations. The four variations were all observed in the heterozygous state in early onset cases. If one or more of the variations do indeed contribute to disease status, their penetrance is expected to be low.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1872-7972
pubmed:author
pubmed:issnType
Electronic
pubmed:day
25
pubmed:volume
467
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
53-7
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Identification of four novel potentially Parkinson's disease associated LRRK2 variations among Iranian patients.
pubmed:affiliation
Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't