parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism

BACKGROUND: parkin mutations are a common cause of parkinsonism. Possessing two parkin mutations leads to early-onset parkinsonism, while having one mutation may predispose to late-onset disease. This dosage pattern suggests that some parkin families should exhibit intergenerational variation in age...

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Bibliographic Details
Main Authors: Poorkaj, Parvoneh, Moses, Lina, Montimurro, Jennifer S, Nutt, John G, Schellenberg, Gerard D, Payami, Haydeh
Format: Artigo
Language:Inglês
Published: BioMed Central 2005
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC551608/
https://ncbi.nlm.nih.gov/pubmed/15725358
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-5-4
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