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Hisao Ueyama

Shiga University of Medical Science

68

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Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy

2018 Scientific Reports
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Novel mutations in the L visual pigment gene found in Japanese men with protan color-vision defect having a normal order L/M gene array

2016 Ophthalmic Genetics
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Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

2016 Japanese Journal of Ophthalmology
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CLINICAL INVESTIGATION : Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

2016 Japanese journal of ophthalmology : the official international journal of the Japanese Ophthalmological Society
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Congenital color-vision defects caused by exon-skipping at splicing

2015
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Significance of serum Zn-α2-glycoprotein for the regulation of blood pressure

2015 Hypertension Research
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A new subset of deutan colour vision defect associated with an L/M visual pigment gene array of normal order and −71C substitution in the Japanese population

2015 Journal of Biochemistry
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Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

2014 Human Mutation
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Genotype-Phenotype Comparison and Functional Investigation of Cone Opsin Variants

2014 Investigative Ophthalmology & Visual Science
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Unique haplotype in exon 3 of cone opsin mRNA affects splicing of its precursor, leading to congenital color vision defect.

2012 Biochemical and Biophysical Research Communications
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