Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset

While many genetic causes of movement disorders have been identified, modifiers of disease expression are largely unknown. X-linked dystonia-parkinsonism (XDP) is a neurodegenerative disease caused by a SINE-VNTR-Alu(AGAGGG)(n) retrotransposon insertion in TAF1, with a polymorphic (AGAGGG)(n) repeat...

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Detalles Bibliográficos
Autores principales: Trinh, Joanne, Lüth, Theresa, Schaake, Susen, Laabs, Björn-Hergen, Schlüter, Kathleen, Laβ, Joshua, Pozojevic, Jelena, Tse, Ronnie, König, Inke, Jamora, Roland Dominic, Rosales, Raymond L, Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E, Kaiser, Frank J, Depienne, Christel, Pearson, Christopher E, Westenberger, Ana, Klein, Christine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976955/
https://www.ncbi.nlm.nih.gov/pubmed/35481544
http://dx.doi.org/10.1093/brain/awac160

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976955/
https://www.ncbi.nlm.nih.gov/pubmed/35481544
http://dx.doi.org/10.1093/brain/awac160

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