Cargando…
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...
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 |
Ejemplares similares
-
Large-Scale Functional RNAi Screen in C. elegans Identifies TGF-β and Notch Signaling Pathways as Modifiers of CACNA1A
por: Pereira, Maria da Conceição, et al.
Publicado: (2016) -
Parkin truncating variants result in a loss-of-function phenotype
por: Santos, Mariana, et al.
Publicado: (2019) -
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias
por: Morais, Sara, et al.
Publicado: (2017) -
Pathological mechanisms underlying single large‐scale mitochondrial DNA deletions
por: Rocha, Mariana C., et al.
Publicado: (2018) -
Parking behaviour under the influence of alcohol
por: Tank, A., et al.
Publicado: (2023)