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LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease
- Source :
- Clinical genetics 71 (2007): 367–370. doi:10.1111/j.1399-0004.2007.00771.x, info:cnr-pdr/source/autori:D. Civitelli; P. Tarantino; G. Nicoletti; I.C. Cirò Candiano; F. Annesi; E.V. De Marco; S. Carrideo; F.E. Rocca; F. Condino; P. Spadafora; P. Pugliese; S. D'Asero; M. Morelli; S. Paglionico; G. Annesi;A. Quattrone./titolo:LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease/doi:10.1111%2Fj.1399-0004.2007.00771.x/rivista:Clinical genetics/anno:2007/pagina_da:367/pagina_a:370/intervallo_pagine:367–370/volume:71
- Publication Year :
- 2007
-
Abstract
- Alterations in the leucine-rich kinase 2 gene (LRRK2; MIM *609007) have been shown to cause an autosomal dominant form of PARK8-linked parkinsonism (1, 2). Within this gene, the G6055A mutation (exon 41; Gly2019Ser) represents the most common mutation described to date both in familial and in sporadic forms of Parkinsons disease (PD).
- Subjects :
- Adult
Male
Heterozygote
Parkinson's disease
Protein Serine-Threonine Kinases
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Genetics
medicine
Humans
Point Mutation
Age of Onset
Genetics (clinical)
Aged
Genes, Dominant
Aged, 80 and over
business.industry
Parkinson Disease
Middle Aged
medicine.disease
LRRK2
nervous system diseases
Haplotypes
Italy
Case-Control Studies
Mutation (genetic algorithm)
Female
business
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 71
- Issue :
- 4
- Database :
- OpenAIRE
- Journal :
- Clinical genetics
- Accession number :
- edsair.doi.dedup.....a37333ea376637178043851926ad04bc
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2007.00771.x