Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing

Background: X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative disorder characterized by progressive dystonia and parkinsonism. It is caused by a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene with a polymorphic (CCCTCT)(n) domain that acts as a genetic modifier...

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Detalles Bibliográficos
Autores principales: Lüth, Theresa, Laβ, Joshua, Schaake, Susen, Wohlers, Inken, Pozojevic, Jelena, Jamora, Roland Dominic G., Rosales, Raymond L., Brüggemann, Norbert, Saranza, Gerard, Diesta, Cid Czarina E., Schlüter, Kathleen, Tse, Ronnie, Reyes, Charles Jourdan, Brand, Max, Busch, Hauke, Klein, Christine, Westenberger, Ana, Trinh, Joanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775018/
https://www.ncbi.nlm.nih.gov/pubmed/35052466
http://dx.doi.org/10.3390/genes13010126

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775018/
https://www.ncbi.nlm.nih.gov/pubmed/35052466
http://dx.doi.org/10.3390/genes13010126

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