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
  • Bezmialem Vakıf University Affiliated: Yes