Dergi makalesi Açık Erişim
Pirkevi, C.; Lesage, S.; Condroyer, C.; Tomiyama, H.; Hattori, N.; Ertan, S.; Brice, A.; Basak, A. N.
{ "@context": "https://schema.org/", "@id": 40951, "@type": "ScholarlyArticle", "creator": [ { "@type": "Person", "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey", "name": "Pirkevi, C." }, { "@type": "Person", "name": "Lesage, S." }, { "@type": "Person", "name": "Condroyer, C." }, { "@type": "Person", "affiliation": "Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan", "name": "Tomiyama, H." }, { "@type": "Person", "affiliation": "Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan", "name": "Hattori, N." }, { "@type": "Person", "affiliation": "Univ Istanbul, Dept Neurol, Cerrahpasa Fac Med, TR-34098 Istanbul, Turkey", "name": "Ertan, S." }, { "@type": "Person", "name": "Brice, A." }, { "@type": "Person", "affiliation": "Bogazici Univ, Dept Mol Biol & Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey", "name": "Basak, A. N." } ], "datePublished": "2009-01-01", "description": "The leucine-rich repeat kinase 2 (LRRK2) G2019S mutation is recognized as the most common cause of familial autosomal dominant and also sporadic forms of Parkinson disease (PD). A common founder has been described for most Europeans and all North Africans and Jews; besides, two distinct G2019S LRRK2 haplotypes were found in a small proportion of European families and in Japanese PD patients. This study revealed a Turkish patient heterozygous for the G2019S mutation sharing the Japanese haplotype. To the best of our knowledge, it is the first time that the G2019S-associated Japanese haplotype has been reported in a different population.", "headline": "A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype", "identifier": 40951, "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", "license": "http://www.opendefinition.org/licenses/cc-by", "name": "A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype", "url": "https://aperta.ulakbim.gov.tr/record/40951" }
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