Mutations in the CNGB3 gene encoding the β -subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ACHM3 ) linked to chromosome 8q21

By Kohl Susanne  

Human Molecular Genetics, Vol. 9, Iss. 14, 2000-09 ,pp. : 2107-2116

Oxford University Press

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Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3

By Sidjanin D.J.  

Human Molecular Genetics, Vol. 11, Iss. 16, 2002-08 ,pp. : 1823-1833

Oxford University Press

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The function of dog models in developing gene therapy strategies for human health

By Nowend Keri  

Mammalian Genome, Vol. 22, Iss. 7-8, 2011-08 ,pp. : 476-485

Springer Publishing Company

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Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

By Cideciyan Artur V.   Rachel Rivka A.   Aleman Tomas S.   Swider Malgorzata   Schwartz Sharon B.   Sumaroka Alexander   Roman Alejandro J.   Stone Edwin M.   Jacobson Samuel G.   Swaroop Anand  

Human Molecular Genetics, Vol. 20, Iss. 7, 2011-04 ,pp. : 1411-1423

Oxford University Press

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The expression of human mitochondrial ferritin rescues respiratory function infrataxin-deficient yeast

By Campanella Alessandro  

Human Molecular Genetics, Vol. 13, Iss. 19, 2004-10 ,pp. : 2279-2288

Oxford University Press

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