Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Early-onset Parkinson’s disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Although many different rearrangements have been found in parkin before, the exact bre...

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Detalles Bibliográficos
Autores principales: Elfferich, Peter, Verleun-Mooijman, Marja C., Maat-Kievit, J. Anneke, van de Warrenburg, Bart P. C., Abdo, Wilson F., Eshuis, Sylvia A., Leenders, Klaus L., Hovestadt, Ad, Zijlmans, Jan C. M., Stroy, Jan-Pieter M., van Swieten, John C., Boon, Agnita J. W., van Engelen, Klaartje, Verschuuren-Bemelmans, Corien C., Lesnik-Oberstein, Saskia A. J., Tassorelli, Cristina, Lopiano, Leonardo, Bonifati, Vincenzo, Dooijes, Dennis, van Minkelen, Rick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215878/
https://www.ncbi.nlm.nih.gov/pubmed/21993715
http://dx.doi.org/10.1007/s10048-011-0302-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215878/
https://www.ncbi.nlm.nih.gov/pubmed/21993715
http://dx.doi.org/10.1007/s10048-011-0302-9

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