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We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A&gt;T, in the PRPH2 gene.

investigative ophthalmology and visual science

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A&gt;T, in<i>PRPH2</i>and Protein Haplotypes in<i>trans</i>as Modifiers

Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, inPRPH2and Protein Haplotypes intransas Modifiers