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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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