Cargando…
Molecular characterization of PRKN structural variations identified through whole‐genome sequencing
BACKGROUND: Early‐onset Parkinson's disease (PD) is the most common inherited form of parkinsonism, with the PRKN gene being the most frequently identified mutated. Exon rearrangements, identified in about 43.2% of the reported PD patients and with higher frequency in specific ethnicities, are...
Autores principales: | Bravo, Paloma, Darvish, Hossein, Tafakhori, Abbas, Azcona, Luis J., Johari, Amir Hossein, Jamali, Faezeh, Paisán‐Ruiz, Coro |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305656/ https://www.ncbi.nlm.nih.gov/pubmed/30328284 http://dx.doi.org/10.1002/mgg3.482 |
Ejemplares similares
-
Whole genome sequencing identifies a novel homozygous exon deletion in the NT5C2 gene in a family with intellectual disability and spastic paraplegia
por: Darvish, Hossein, et al.
Publicado: (2017) -
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes
por: Darvish, Hossein, et al.
Publicado: (2020) -
A novel PUS7 mutation causes intellectual disability with autistic and aggressive behaviors
por: Darvish, Hossein, et al.
Publicado: (2019) -
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
por: Ruiz-Martínez, Javier, et al.
Publicado: (2017) -
Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson’s disease
por: Li, Tianbai, et al.
Publicado: (2020)