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. | AVESİS

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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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Kesim F. Y., Tuncer Kılınç F. N., Yücesan E., Çavuşoğlu K., Çalık M., İşcan A., ...More

European Human Genetics Conference, European Society of Human Genetics (ESHG), Milan, Italy, 31 May - 03 June 2014, pp.1

Publication Type: Conference Paper / Summary Text
City: Milan
Country: Italy
Page Numbers: pp.1
Bezmialem Vakıf University Affiliated: Yes