Rohrschneider, K.

mutation patient phenotype response cabp 4 night blindness analysis protein blindness genet acuity night dystrophy nonsense nat genet patient vi -3 netherland function p.arg cep 290 channel mertk rotterdam eye hospital calcium cause cone –rod dystrophy cep 290 mrna novel nonsense mutation radboud university nijmegen family patients vi -3 product photoreceptor novel result vision synaptic .2991ϩ1655a j hum genet cabp 4 mrna cousin experience night blindness cabp 4 gene p.arg 151x mutation p.arg 216x mutation cav 1.4 channels nijmegen control study exon 7 vi -3 eosrd rotterdam disorder disease control individuals exons 7 nonsense mutation icker rod function hum mol genet identi individual al .1 primer effect pathway cacna autosomal abnormality syndrome marbled appearance fundu stichting recessive splice x-linked zeitz proband cacna 1f