Mutation in the PYK2-binding domain of pitpnm3 causes autosomal dominant cone dystrophy (CORD5) in two swedish families

Köhn, L., Kadzhaev, K., Burstedt, M. S. I., Haraldsson, S., Sandgren, O., & Golovleva, I. (2008). Mutation in the PYK2-binding domain of pitpnm3 causes autosomal dominant cone dystrophy (CORD5) in two swedish families. In Advances in Experimental Medicine and Biology (Vol. 613, pp. 229–234). https://doi.org/10.1007/978-0-387-74904-4_26