Article
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
Human mutation - 1 Jan 2007
Marongiu Roberta, Brancati Francesco, Antonini Angelo, Ialongo Tamara, Ceccarini Caterina, Scarciolla Oronzo, Capalbo Anna, Benti Riccardo, Pezzoli Gianni, Dallapiccola Bruno, Goldwurm Stefano, Valente Enza Maria
Abstract excerpt
Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian...
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