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.

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