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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Detalles Bibliográficos
Autores principales: Poorkaj, Parvoneh, Moses, Lina, Montimurro, Jennifer S, Nutt, John G, Schellenberg, Gerard D, Payami, Haydeh
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2005
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC551608/
https://www.ncbi.nlm.nih.gov/pubmed/15725358
http://dx.doi.org/10.1186/1471-2377-5-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC551608/
https://www.ncbi.nlm.nih.gov/pubmed/15725358
http://dx.doi.org/10.1186/1471-2377-5-4

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