Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.
Identifieur interne : 000024 ( Main/Exploration ); précédent : 000023; suivant : 000025Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.
Auteurs : Milena. Jankovi [Serbie] ; Nikola. Kresojevi [Serbie] ; Valerija. Dobri [Serbie] ; Vladana. Markovi [Serbie] ; Igor. Petrovi [Serbie] ; Ivana. Novakovi [Serbie] ; Vladimir. Kosti [Serbie]Source :
- Journal of the neurological sciences ; 2015.
Descripteurs français
- Wicri :
- geographic : Serbie.
English descriptors
- KwdEn :
- Adult, Aged, DNA Mutational Analysis, Exons, Female, Genetic Predisposition to Disease (genetics), Genotype, Humans, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Polymorphism, Single Nucleotide (genetics), Protein-Serine-Threonine Kinases (genetics), Serbia (epidemiology), Young Adult.
- MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Serbia.
- epidemiology : Parkinson Disease.
- genetics : Genetic Predisposition to Disease, Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Aged, DNA Mutational Analysis, Exons, Female, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common cause of autosomal dominant Parkinson's disease (PD). Large international studies have revealed that pathogenic mutations are clustered in several exons coding for functional domains of LRRK2 protein, but the mutation frequency differs among populations. Systematic study of LRRK2 mutation prevalence and phenotype in Serbian population has not been performed.
DOI: 10.1016/j.jns.2015.04.002
PubMed: 25899316
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en">Mutations in LRRK2 (leucine-rich repeat kinase 2) are the most common cause of autosomal dominant Parkinson's disease (PD). Large international studies have revealed that pathogenic mutations are clustered in several exons coding for functional domains of LRRK2 protein, but the mutation frequency differs among populations. Systematic study of LRRK2 mutation prevalence and phenotype in Serbian population has not been performed.</div>
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