| Reference : Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short c... |
| Scientific journals : Article | |||
| Life sciences : Genetics & genetic processes | |||
| http://hdl.handle.net/10993/17112 | |||
| Analysis of the parkin deletion in sporadic and familial Parkinson's disease. Short communication. | |
| English | |
Krüger, Rejko  [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. [> >] | |
| 1999 | |
| Journal of Neural Transmission | |
| 106 | |
| 2 | |
| 159-63 | |
| Yes (verified by ORBilu) | |
| 0300-9564 | |
| AUSTRIA | |
| [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) | |
| http://hdl.handle.net/10993/17112 |
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