Publication: 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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2014-06-01T00:00:00Z
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Yücesan, Emrah
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Yücesan 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