Pott, J.W.R.

mutation patient phenotype patient vi -3 cep 290 analysis mertk cep 290 mrna novel nonsense mutation acuity family patients vi -3 product .2991ϩ1655a nonsense cousin genet p.arg 151x mutation p.arg dystrophy protein exon 7 vi -3 eosrd disease control individuals exons 7 hum mol genet individual rotterdam eye hospital response effect abnormality syndrome netherland marbled appearance fundu splice proband appearance radboud university nijmegen patient vi -6 result vision university c .2991ϩ1655a mutation cep 290 mutations macular region classi fied identi fied variant nat genet c .2991ϩ1655a hum mutat amaurosi pigment epithelium mertk gene novel family member p.arg 151x scleral rim joubert syndrome parent reading frame leber den hollander allele centre member nystagmu control study hollander photoreceptor retiniti retina function wild-type nijmegen region