Citations for
1CORD5, CORD6, GUCY2D, LCA1
Photoreceptor Guanylate Cyclase (GUCY2D) Mutations Cause Retinal Dystrophies by Severe Malfunction of Ca2+-Dependent Cyclic GMP Synthesis.
Wimberg H, Lev D, Yosovich K, Namburi P, Banin E, Sharon D, Koch KW.
Front Mol Neurosci. Sep 25;11:348. doi: 10.3389/fnmol.2018.00348. eCollection 2018. 2018
2CORD5, PITPNM3
Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
Reinis A, Golovleva I, Köhn L, Sandgren O.
Acta Ophthalmol 91(3):259-66. doi: 10.1111/j.1755-3768.2011.02381.x. 2013
3CORD5,PITPNM3
Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
Kohn L, Kadzhaev K, Burstedt MS, Haraldsson S, Hallberg B, Sandgren O, Golovleva I.
Eur J Hum Genet 15(6):664-71. Epub 2007 Mar 21. 2007
4CORD5
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13.
Balciuniene J, Johansson K, Sandgren O, Wachtmeister L, Holmgren G, Forsman K.
Genomics 30(2):281-6. 1995