| 1 | CBBM1, OPN1LW, OPN1MW
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| Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction.
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| Stingl K, Baumann B, De Angeli P, Vincent A, Héon E, Cordonnier M, De Baere E, Raskin S, Sato MT, Shiokawa N, Kohl S, Wissinger B.
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| Int J Mol Sci Jun 20;23(12):6868. doi: 10.3390/ijms23126868 2022
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| 2 | CBBM1, OPN1LW, OPN1MW
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| Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.
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| Llorente-La-Orden C, Burgos-Blasco B, Domingo-Gordo B, Hernández-García E, Gómez-de-Liaño R.
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| J Pediatr Genet. Aug 31;11(2):151-153. doi: 10.1055/s-0040-1716332 2020
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| 3 | CBBM1, CBD, OPN1MW
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| Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.
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| Carroll J, Baraas RC, Wagner-Schuman M, Rha J, Siebe CA, Sloan C, Tait DM, Thompson S, Morgan JI, Neitz J, Williams DR, Foster DH, Neitz M.
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| Proc Natl Acad Sci U S A roc Natl Acad Sci U S A. 2009 Nov 23. [Epub ahead of print]PMID: 19934058 2009
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| 4 | CBBM1, RGCP@
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| Spectrum of color gene deletions and phenotype in patients with blue cone monochromacy.
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| Ayyagari R, Kakuk LE, Bingham EL, Szczesny JJ, Kemp J, Toda Y, Felius J, Sieving PA.
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| Hum Genet 107(1):75-82. 2000
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| 5 | CBBM1, OPN1LW, OPN1MW
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| Gene conversion between red and defective green opsin gene in blue cone monochromacy.
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| Reyniers E, Van Thienen MN, Meire F, De Boulle K, Devries K, Kestelijn P, Willems PJ.
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| Genomics 29(2):323-8. 1995
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| 6 | CBBM1
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| Genetic heterogeneity among blue-cone monochromats.
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| Nathans J, et al.
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| Am J Hum Genet 53 : 987-1000. 1993
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| 7 | CBBM1, LCR-RGCP@
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| Molecular genetics of human blue cone monochromacy.
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| Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al.
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| Science 245 : 831-838. 1989
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| 8 | CBBM1
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| Mapping X-linked ophthalmic diseases. III.Provisional assignment of the locus for blue cone monochromacy to Xq28.
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| Lewis RA, et al.
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| Arch Ophthalmol 105 : 1055-1059. 1987
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| 9 | CBBM1
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| Congenital X-linked incomplete achromatopsia: evidence for slow progression, carrier fundus findings and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.
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| Fleischman JA, et al.
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| Arch Ophthalmol 99: 468-472. 1981
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