Collin, R.W.J.

mutation patient protein family analysis photoreceptor response dystrophy figure proband netherland acuity variant identi fied region function phenotype identi genet radboud university nijmegen domain residue channel cnga 3 impg 2 cabp 4 night blindness nijmegen american journal study disorder autosomal ophthalmol rotterdam eye hospital nonsense stichting vision attenuated vessels p.arg disease centre cone dystrophy missense achromatopsia cngb 3 blindness splice cause missense mutation fundu cone photoreceptor disorders genetic sequence recessive result cousin cngb 3 genes night pde 6c table change individual nat genet pde 6c mutations disc pallor rotterdam patient vi -3 macular sibling department degeneration cone function examination nonsense mutation cep 290 impg 2 protein foveal re flex novel mertk subunit