Ingeborgh van den Born, L.

mutation patient family protein analysis impg 2 identi fied figure attenuated vessels identi acuity phenotype cousin region disease individual dystrophy netherland patient vi -3 domain disc pallor p.arg nonsense proband cep 290 impg 2 protein mertk photoreceptor radboud university nijmegen fundu residue american journal wild-type rpe atrophy result cep 290 mrna novel nonsense mutation periphery function nijmegen impg 2 mutations matrix patients vi -3 product pallor study retiniti vessel pigmentosa interphotoreceptor bone spicules drspkend mutation analysis maculopathy attenuated atrophy macular .2991ϩ1655a centre sequence genet p.arg 151x mutation impg 2 gene retina interphotoreceptor matrix genetic exon 7 vi -3 primer eosrd genomic rotterdam eye hospital control individuals hum mol genet figure 2 exons 7 right eye table cataract dutch