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Whole genome SNP genotyping confirms segregation of Unverricht-Lundborg Disease (ULD) with a repeat expansion in CSTB on 21q in a large consanguineous family followed by a novel haplotype based approach identifying the parent of origin and carrier status in the child with Trisomy 21 under the age of onset for ULD.

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dc.contributor.authorYücesan, Emrah
dc.contributor.institutionauthorYÜCESAN, EMRAH
dc.contributor.institutionauthorİŞCAN, AKIN
dc.date.accessioned2020-01-14T21:00:04Z
dc.date.available2020-01-14T21:00:04Z
dc.date.issued2014-06-01T00:00:00Z
dc.identifier.urihttps://openaccess.bezmialem.edu.tr/handle/20.500.12645/12761
dc.subjectYücesan E., -Whole genome SNP genotyping confirms segregation of Unverricht-Lundborg Disease (ULD) with a repeat expansion in CSTB on 21q in a large consanguineous family followed by a novel haplotype based approach identifying the parent of origin and carrier status in the child with Trisomy 21 under the age of onset for ULD.-, European Human Genetics Conference, European Society of Human Genetics (ESHG), Milan, İtalya, 31 Mayıs - 03 Haziran 2014, ss.1
dc.titleWhole genome SNP genotyping confirms segregation of Unverricht-Lundborg Disease (ULD) with a repeat expansion in CSTB on 21q in a large consanguineous family followed by a novel haplotype based approach identifying the parent of origin and carrier status in the child with Trisomy 21 under the age of onset for ULD.
dc.typeConference Paper
dspace.entity.typePublication
local.avesis.id711033c0-8f7b-4055-ada9-a9b06d858fac
local.publication.isinternational1
relation.isAuthorOfPublication9ea2b80f-531b-49a7-83ef-723bfd8584b2
relation.isAuthorOfPublication12538a20-d5a6-4246-ab37-58afe7bbae72
relation.isAuthorOfPublication.latestForDiscovery9ea2b80f-531b-49a7-83ef-723bfd8584b2
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