Research and Reports in Medical Sciences

Umea university, Sweden

Publications

• Extended Abstract   
  Ophthalmology 2018: Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families-Irina Golovleva- Umea University
  Author(s): Irina Golovleva
  
  Autosomal dominant cone dystrophy is a rare disease predominantly affecting cone photoreceptors. Here we refine the CORD5 locus previously mapped to 17p13 from 27 to 14.3 cM and identified a missense mutation, Q626H in the phosphatidylinositol transfer membrane-associated  protein  in 2 Swedish families. In our study, the mutation causing CORD5 is located in the C-terminal region interacting with a member of non-receptor protein tyrosine kinases, PYK2. .. Read More»
  

  Abstract PDF