Article
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.
Human mutation - 1 Apr 2008
Marongiu Roberta, Ferraris Alessandro, Ialongo Tàmara, Michiorri Silvia, Soleti Francesco, Ferrari Francesca, Elia Antonio E, Ghezzi Daniele, Albanese Alberto, Altavista Maria Concetta, Antonini Angelo, Barone Paolo, Brusa Livia, Cortelli Pietro, Martinelli Paolo, Pellecchia Maria Teresa, Pezzoli Gianni, Scaglione Cesa, Stanzione Paolo, Tinazzi Michele, Zecchinelli Anna, Zeviani Massimo, Cassetta Emanuele, Garavaglia Barbara, Dallapiccola Bruno, Bentivoglio Anna Rita, Valente Enza Maria
Abstract excerpt
Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and controls yielded...
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