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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...
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| Hlavní autoři: | , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BioMed Central
2005
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| Témata: | |
| On-line přístup: | 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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