Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)

By Cremers F.P.M.  

Human Molecular Genetics, Vol. 10, Iss. 15, 2001-07 ,pp. : 1555-1562

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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Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex

By Gonzalez-Santos Juana Maria   Cao Huibi   Duan Rongqi Cathleen   Hu Jim  

Human Molecular Genetics, Vol. 17, Iss. 2, 2008-01 ,pp. : 225-239

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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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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