DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator () identifies tissue-specific exons and putative regulatory elements

By Kirschner Renate   Erturk Deniz   Zeitz Christina   Sahin Selen   Ramser Juliane   Cremers Frans   Ropers H.-Hilger   Berger Wolfgang  

Human Genetics, Vol. 109, Iss. 3, 2001-09 ,pp. : 271-278

Springer Publishing Company

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

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

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

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

Oxford University Press

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