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 ![]() | |
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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