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

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

Oxford University Press

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Expression of PRPF31 and TFPT : regulation in health and retinal disease

By Rose Anna M.   Shah Amna Z.   Waseem Naushin H.   Chakarova Christina F.   Alfano Giovanna   Coussa Razek G.   Ajlan Radwan   Koenekoop Robert K.   Bhattacharya Shomi S.  

Human Molecular Genetics, Vol. 21, Iss. 18, 2012-09 ,pp. : 4126-4137

Oxford University Press

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Two QTLs Located on Chromosomes 1 and 5 Modulate Different Aspects of the Performance of Mice of the B × D Ty RI Strain Series in the Morris Navigation Task

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Behavior Genetics, Vol. 32, Iss. 1, 2002-01 ,pp. : 69-78

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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Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

By Patel N.  

Human Molecular Genetics, Vol. 10, Iss. 13, 2001-06 ,pp. : 1369-1378

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