Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone–rod dystrophy

By Wilkie Susan E.   Newbold RichardJ.  

Human Molecular Genetics, Vol. 9, Iss. 20, 2000-12 ,pp. : 3065-3073

Oxford University Press

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Mutations in the retinal guanylate cyclase ( RETGC-1 ) gene in dominant cone–rod dystrophy

By Hunt D.M.  

Human Molecular Genetics, Vol. 7, Iss. 7, 1998-07 ,pp. : 1179-1184

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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The R172W mutation in peripherin/ rds causes a cone–rod dystrophy in transgenic mice

By Ding Xi-Qin  

Human Molecular Genetics, Vol. 13, Iss. 18, 2004-09 ,pp. : 2075-2087

Oxford University Press

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The destabilization of human GCAP1 by a proline to leucine mutation might cause cone-rod dystrophy

By Newbold R.J.  

Human Molecular Genetics, Vol. 10, Iss. 1, 2001-01 ,pp. : 47-54

Oxford University Press

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