Autosomal dominant retinal dystrophies caused by a founder splice site mutation, c.828+3A>T, in PRPH2 and protein haplotypes in trans as modifiers

Suma Shankar, Dianna K. Hughbanks-Wheaton, David G. Birch, Lori S. Sullivan, Karen N. Conneely, Sara J. Bowne, Edwin M. Stone, Stephen P. Daiger

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7 Scopus citations

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