Mutations in HPRP3 , a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

By Moore A.T.  

Human Molecular Genetics, Vol. 11, Iss. 1, 2002-01 ,pp. : 87-92

Oxford University Press

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Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa

By Bowne Sara J.   Daiger Stephen P.   Hims Matthew M.  

Human Molecular Genetics, Vol. 8, Iss. 11, 1999-10 ,pp. : 2121-2128

Oxford University Press

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PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa

By Tanackovic Goranka   Ransijn Adriana   Thibault Philippe   Abou Elela Sherif   Klinck Roscoe   Berson Eliot L.   Chabot Benoit   Rivolta Carlo  

Human Molecular Genetics, Vol. 20, Iss. 11, 2011-06 ,pp. : 2116-2130

Oxford University Press

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Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa

By Bowne S.J.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 559-568

Oxford University Press

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Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31

By Deery E.C.  

Human Molecular Genetics, Vol. 11, Iss. 25, 2002-12 ,pp. : 3209-3219

Oxford University Press

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