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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Functional analysis of cone–rod homeobox (CRX) mutations associated with retinal dystrophy

By Chen S.  

Human Molecular Genetics, Vol. 11, Iss. 8, 2002-04 ,pp. : 873-884

Oxford University Press

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Localisation of a Gene for Dominant Cone-Rod Dystrophy ( CORD6 ) to Chromosome 17p

By Kelsell Rosemary E.   Evans Kevin   Gregory Cheryl Y.   Moore Anthony T.   Bird Alan C.   Hunt David M.  

Human Molecular Genetics, Vol. 6, Iss. 4, 1997-01 ,pp. : 597-600

Oxford University Press

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A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1

By Payne A.M.  

Human Molecular Genetics, Vol. 7, Iss. 2, 1998-02 ,pp. : 273-277

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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