LRRK2 G6055A mutation in Italian patients with familial or sporadic Parkinson's disease
| Autor: | Francesca Condino, I.C. Cirò Candiano, Aldo Quattrone, Sara Carrideo, Grazia Annesi, Ferdinanda Annesi, Maurizio Morelli, S D’Asero, Sandra Paglionico, Patrizia Tarantino, Donatella Civitelli, EV De Marco, Pierfrancesco Pugliese, Giuseppe Nicoletti, Federico Rocca, Patrizia Spadafora |
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| Rok vydání: | 2007 |
| Předmět: |
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 |
| Zdroj: | 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 |
| ISSN: | 0009-9163 |
| Popis: | 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). |
| Databáze: | OpenAIRE |
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