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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2005
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| Materias: | |
| 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 |