RP
In ten unrelated RP patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in CRB1.
In ten unrelated <span class="disease" id="10508521-7-17-19">RP</span> patients with preserved para-arteriolar RPE, we identified a homozygous AluY insertion disrupting the ORF, five homozygous missense mutations and four compound heterozygous mutations in <span class="gene" id="10508521-7-206-210">CRB1</span>.