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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Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations

By Liu Jiewu  

Human Molecular Genetics, Vol. 14, Iss. 19, 2005-10 ,pp. : 2945-2958

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 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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Autosomal recessive retinitis pigmentosa and cone–rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

By Blankenagel A.  

Human Molecular Genetics, Vol. 7, Iss. 3, 1998-03 ,pp. : 355-362

Oxford University Press

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