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Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).
Hum Mol Genet. 2001 Jul 15;10(15):1555-62. doi: 10.1093/hmg/10.15.1555.
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Gene therapy restores vision in a canine model of childhood blindness.
Nat Genet. 2001 May;28(1):92-5. doi: 10.1038/ng0501-92.
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Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865.
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Null RPGRIP1 alleles in patients with Leber congenital amaurosis.
Am J Hum Genet. 2001 May;68(5):1295-8. doi: 10.1086/320113. Epub 2001 Mar 29.

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