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Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD

OBJECTIVES: To identify the genomic mechanisms that result in PARK2 large gene deletions. METHODS: We conducted mutation screening using PCR amplification of PARK2-coding regions and exon-intron boundaries, followed by sequencing to evaluate a large series of 244 unrelated Portuguese patients with s...

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Detalles Bibliográficos
Autores principales: Morais, Sara, Bastos-Ferreira, Rita, Sequeiros, Jorge, Alonso, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856358/
https://www.ncbi.nlm.nih.gov/pubmed/27182553
http://dx.doi.org/10.1212/NXG.0000000000000073

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