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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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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Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements

By Bruno Ivone G.   Jin Wei   Cote Gilbert J.  

Human Molecular Genetics, Vol. 13, Iss. 21, 2004-11 ,pp. : 2725-2725

Oxford University Press

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Correction of aberrant FGFR1 alternative RNA splicing through targeting of intronic regulatory elements

By Bruno Ivone G.   Jin Wei   Cote Gilbert J.  

Human Molecular Genetics, Vol. 13, Iss. 20, 2004-10 ,pp. : 2409-2420

Oxford University Press

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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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