Dergi makalesi Açık Erişim
Pirkevi, C.; Lesage, S.; Condroyer, C.; Tomiyama, H.; Hattori, N.; Ertan, S.; Brice, A.; Basak, A. N.
<?xml version='1.0' encoding='UTF-8'?> <record xmlns="http://www.loc.gov/MARC21/slim"> <leader>00000nam##2200000uu#4500</leader> <datafield tag="245" ind1=" " ind2=" "> <subfield code="a">A LRRK2 G2019S mutation carrier from Turkey shares the Japanese haplotype</subfield> </datafield> <datafield tag="909" ind1="C" ind2="4"> <subfield code="p">NEUROGENETICS</subfield> <subfield code="v">10</subfield> <subfield code="n">3</subfield> <subfield code="c">271-273</subfield> </datafield> <controlfield tag="001">40951</controlfield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="520" ind1=" " ind2=" "> <subfield code="a">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.</subfield> </datafield> <datafield tag="650" ind1="1" ind2="7"> <subfield code="2">opendefinition.org</subfield> <subfield code="a">cc-by</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Lesage, S.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Condroyer, C.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="u">Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan</subfield> <subfield code="a">Tomiyama, H.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="u">Juntendo Univ, Sch Med, Dept Neurol, Tokyo 113, Japan</subfield> <subfield code="a">Hattori, N.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="u">Univ Istanbul, Dept Neurol, Cerrahpasa Fac Med, TR-34098 Istanbul, Turkey</subfield> <subfield code="a">Ertan, S.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="a">Brice, A.</subfield> </datafield> <datafield tag="700" ind1=" " ind2=" "> <subfield code="u">Bogazici Univ, Dept Mol Biol & Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey</subfield> <subfield code="a">Basak, A. N.</subfield> </datafield> <datafield tag="980" ind1=" " ind2=" "> <subfield code="b">article</subfield> <subfield code="a">publication</subfield> </datafield> <datafield tag="542" ind1=" " ind2=" "> <subfield code="l">open</subfield> </datafield> <datafield tag="100" ind1=" " ind2=" "> <subfield code="u">Bogazici Univ, Dept Mol Biol & Genet, Neurodegenerat Res Lab, TR-34342 Istanbul, Turkey</subfield> <subfield code="a">Pirkevi, C.</subfield> </datafield> <datafield tag="260" ind1=" " ind2=" "> <subfield code="c">2009-01-01</subfield> </datafield> <controlfield tag="005">20210315203516.0</controlfield> <datafield tag="909" ind1="C" ind2="O"> <subfield code="o">oai:zenodo.org:40951</subfield> <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield> </datafield> <datafield tag="856" ind1="4" ind2=" "> <subfield code="z">md5:f8a2dc3cb79abbaa549729ead7e51dbe</subfield> <subfield code="s">213</subfield> <subfield code="u">https://aperta.ulakbim.gov.trrecord/40951/files/bib-2d687bba-9ad9-40d8-9f6f-b84094e7dc7a.txt</subfield> </datafield> <datafield tag="540" ind1=" " ind2=" "> <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield> <subfield code="a">Creative Commons Attribution</subfield> </datafield> <datafield tag="024" ind1=" " ind2=" "> <subfield code="a">10.1007/s10048-009-0173-5</subfield> <subfield code="2">doi</subfield> </datafield> </record>
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