Serveur d'exploration autour de Joseph Jankovic

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Identification of novel variants in LRRK2 gene in patients with Parkinson's disease in Serbian population.

Identifieur interne : 000024 ( Main/Exploration ); précédent : 000023; suivant : 000025

Identification 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 :

RBID : pubmed:25899316

Descripteurs français

English descriptors

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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<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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