Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.

Schormair, B

Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease. [electronic resource] - Clinical genetics 03 2018 - 603-612 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1399-0004

10.1111/cge.13124 doi


Adult
Age of Onset
Alleles
DNA Mutational Analysis
Female
Genes, Recessive
Genetic Association Studies--methods
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Male
Middle Aged
Mutation
Parkinson Disease--diagnosis
Pedigree
Proteins--genetics
Risk Factors
Sequence Analysis, DNA
Exome Sequencing--methods
Young Adult