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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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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Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration

By Jacobson Samuel G.  

Human Molecular Genetics, Vol. 13, Iss. 17, 2004-09 ,pp. : 1893-1902

Oxford University Press

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Somatic mutations of CASP3 gene in human cancers

By Soung Young   Lee Jong   Kim Su   Park Won   Nam Suk   Lee Jung   Yoo Nam   Lee Sug  

Human Genetics, Vol. 115, Iss. 2, 2004-07 ,pp. : 112-115

Springer Publishing Company

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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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