| 1 | CBP, OPN1LW
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| Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.
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| Ueyama H, Muraki-Oda S, Yamade S, Tanabe S, Yamashita T, Shichida Y, Ogita H.
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| Biochem Biophys Res Commun 424(1):152-7. doi: 10.1016/j.bbrc.2012.06.094. Epub 2012 Jun 23.
2012
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| 2 | CBP, DUP16P
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| A microduplication of CBP in a patient with mental retardation and a congenital heart defect.
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| Thienpont B, Breckpot J, Holvoet M, Vermeesch JR, Devriendt K.
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| Am J Med Genet A 143(18):2160-4. 2007
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| 3 | CBD, CBP, OPN1LW, OPN1MW
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| The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes.
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| Jagla WM, Jagle H, Hayashi T, Sharpe LT, Deeb SS.
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| Hum Mol Genet 11(1):23-32. 2002
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| 4 | CBP, RGCP@
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| Tandem array of human visual pigment genes at Xq28.
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| Vollrath D, et al.
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| Science 240 : 1669-1672. 1988
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