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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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| Hlavní autoři: | , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Academy of Neurology
2009
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| Témata: | |
| On-line přístup: | 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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