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Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations

OBJECTIVE: Mutations in both alleles of parkin have been shown to result in Parkinson disease (PD). However, it is unclear whether haploinsufficiency (presence of a mutation in only 1 of the 2 parkin alleles) increases the risk for PD. METHODS: We performed comprehensive dosage and sequence analysis...

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Detalhes bibliográficos
Main Authors: Pankratz, N, Kissell, D K., Pauciulo, M W., Halter, C A., Rudolph, A, Pfeiffer, R F., Marder, K S., Foroud, T, Nichols, W C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Academy of Neurology 2009
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2715211/
https://ncbi.nlm.nih.gov/pubmed/19636047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3181af7a33
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