LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Identifieur interne : 003453 ( Ncbi/Curation ); précédent : 003452; suivant : 003454LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.
Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch ; Mario Ezquerra ; Eduardo Tolosa ; Elena Lorenzo ; Jaione Irigoyen ; Carles Gaig ; María A. Pastor ; Alexandra I. Soto-Ortolaza ; Owen A. Ross ; María C. Rodríguez-Oroz ; Francesc Valldeoriola ; María J. Martí ; María R. Luquin ; Jordi Perez-Tur ; Juan A. Burguera ; José A. Obeso ; Pau PastorSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Arginine, Protein-Serine-Threonine Kinases, Serine.
- genetics : Mutation, Parkinson Disease.
- Adult, Age Factors, Aged, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Family Health, Female, Genetic Linkage, Haplotypes, Humans, Male, Middle Aged.
Abstract
Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.
DOI: 10.1002/mds.23968
PubMed: 22038903
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pubmed:22038903Le document en format XML
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<author><name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
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<term>Arginine (genetics)</term>
<term>Chromosomes, Human, Pair 12</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Genetic Linkage</term>
<term>Haplotypes</term>
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<term>Parkinson Disease</term>
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<term>Age Factors</term>
<term>Aged</term>
<term>Chromosomes, Human, Pair 12</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
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<term>Genetic Linkage</term>
<term>Haplotypes</term>
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<front><div type="abstract" xml:lang="en">Mutations in the Leucine-Rich Repeat Kinase 2 (LRRK2) gene at chromosome 12q12 are the most common genetic cause of sporadic and familial late-onset Parkinson's disease. Our aim was to identify novel LRRK2 mutations in late-onset Parkinson's disease families.</div>
</front>
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