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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Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism

By Ding Xi-Qin   Harry Cynthia S.   Umino Yumiko   Matveev Alexander V.   Fliesler Steven J.   Barlow Robert B.  

Human Molecular Genetics, Vol. 18, Iss. 24, 2009-12 ,pp. : 4770-4780

Oxford University Press

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Gene therapy rescues cone function in congenital achromatopsia

By Komromy Andrs M.   Alexander John J.   Rowlan Jessica S.   Garcia Monique M.   Chiodo Vince A.   Kaya Asli   Tanaka Jacqueline C.   Acland Gregory M.   Hauswirth William W.   Aguirre Gustavo D.  

Human Molecular Genetics, Vol. 19, Iss. 13, 2010-07 ,pp. : 2581-2593

Oxford University Press

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X-Linked Liver Glycogenosis Type II (XLg II) Is Caused by Mutations in PHKA2 , the Gene Encoding the Liver α Subunit of Phosphorylase Kinase

By Hendrickx Jan   Dams Erna   Coucke Paul   Lee Philip   Fernandes John   Willems Patrick J.  

Human Molecular Genetics, Vol. 5, Iss. 5, 1996-01 ,pp. : 649-652

Oxford University Press

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Mutations in the RPGR gene cause X-linked cone dystrophy

By Yang Z.  

Human Molecular Genetics, Vol. 11, Iss. 5, 2002-03 ,pp. : 605-611

Oxford University Press

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