Reference : Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short c...
Scientific journals : Article
Life sciences : Genetics & genetic processes
Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication.
Krüger, Rejko mailto [University of Luxembourg > Faculty of Science, Technology and Communication (FSTC) > Life Science Research Unit]
Vieira-Sacker, A. M. [> >]
Kuhn, W. [> >]
Muller, T. [> >]
Woitalla, D. [> >]
Schols, L. [> >]
Przuntek, H. [> >]
Epplen, J. T. [> >]
Riess, O. [> >]
Journal of Neural Transmission
Yes (verified by ORBilu)
[en] Adult ; Age of Onset ; DNA Mutational Analysis ; Exons/genetics ; Genes, Recessive ; Germany ; Homozygote ; Humans ; Ligases ; Middle Aged ; Parkinson Disease/diagnosis/genetics ; Polymerase Chain Reaction ; Proteins/genetics ; Sequence Deletion ; Ubiquitin-Protein Ligases
[en] Recently a mutation in the parking gene has been identified as the cause for an autosomal-recessively inherited form of early onset Parkinson's disease (EOPD). The disease causing minimal deletion has been defined as a homozygous exon 4 loss in the parkin gene among Japanese patients. We investigated 140 sporadic and familial EOPD patients of German ancestry for the exon 4 deletion in the parkin gene. None of our patients exhibited a homozygous deletion of exon 4, suggesting a minor role of this mutation for EOPD in Caucasians. Nevertheless a detailed mutation analysis is warranted to explore the overall significance of mutations in the parkin gene in EOPD.
Luxembourg Centre for Systems Biomedicine (LCSB): Clinical & Experimental Neuroscience (Krüger Group)

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