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Article

A molecular case report of autosomal dominant retinitis pigmentosa: RP1/RHO sequence variants in a Turkish family.

Omics : a journal of integrative biology - 1 Jan 2000

Nalbantoglu Sinem M, Shahbazov Cahit, Berdeli Afig

Abstract excerpt

Retinitis pigmentosa (RP) is an inherited progressive retinal disease with a complex inheritance pattern affecting about 1 in 3,500 people worldwide. To date, a large number of sequence changes in the causal contributor genes of wide-spectrum heterogeneous RP were reported, including deletions, insertions, or substitutions that lead missense mutations or truncations. Here we present an association between the...

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PMID: 22321012
DOI: 10.1089/omi.2011.0043

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RHO

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