DNAJC13 mutations in Parkinson disease

A Saskatchewan multi-incident family was clinically characterized with Parkinson disease (PD) and Lewy body pathology. PD segregates as an autosomal-dominant trait, which could not be ascribed to any known mutation. DNA from three affected members was subjected to exome sequencing. Genome alignment,...

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Hlavní autoři: Vilariño-Güell, Carles, Rajput, Alex, Milnerwood, Austen J., Shah, Brinda, Szu-Tu, Chelsea, Trinh, Joanne, Yu, Irene, Encarnacion, Mary, Munsie, Lise N., Tapia, Lucia, Gustavsson, Emil K., Chou, Patrick, Tatarnikov, Igor, Evans, Daniel M., Pishotta, Frederick T., Volta, Mattia, Beccano-Kelly, Dayne, Thompson, Christina, Lin, Michelle K., Sherman, Holly E., Han, Heather J., Guenther, Bruce L., Wasserman, Wyeth W., Bernard, Virginie, Ross, Colin J., Appel-Cresswell, Silke, Stoessl, A. Jon, Robinson, Christopher A., Dickson, Dennis W., Ross, Owen A., Wszolek, Zbigniew K., Aasly, Jan O., Wu, Ruey-Meei, Hentati, Faycal, Gibson, Rachel A., McPherson, Peter S., Girard, Martine, Rajput, Michele, Rajput, Ali H., Farrer, Matthew J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3999380/
https://ncbi.nlm.nih.gov/pubmed/24218364
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt570
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