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Autosomal dominant Parkinson’s disease caused by SNCA duplications

The discovery in 1997 that mutations in the SNCA gene cause Parkinson’s disease (PD) greatly advanced our understanding of this illness. There are pathogenic missense mutations and multiplication mutations in SNCA. Thus, not only a mutant protein, but also an increased dose of wild-type protein can...

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Bibliografiska uppgifter
I publikationen:Parkinsonism Relat Disord
Huvudupphovsmän: Konno, Takuya, Ross, Owen A., Puschmann, Andreas, Dickson, Dennis W., Wszolek, Zbigniew K.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4820832/
https://ncbi.nlm.nih.gov/pubmed/26350119
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.parkreldis.2015.09.007
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