Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN

BACKGROUND: Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD), with biallelic mutations, resulting in a clinical phenotype. However, normal variation is also common in PRKN, particularly in the form of copy number variation (...

Descripción completa

Detalles Bibliográficos
Autores principales: Williams, Eli S., Barrett, Matthew J., Dhamija, Radhika, Toran, Lisa, Chambers, Chelsea, Mahadevan, Mani S., Golden, Wendy L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014474/
https://www.ncbi.nlm.nih.gov/pubmed/29577677
http://dx.doi.org/10.1002/mgg3.386

Ejemplares similares

Ejemplares similares