Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
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A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotypeGyrate atrophy of the choroid and retina diagnosed by ornithine-δ-aminotransferase gene analysis: a case reportMolecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.A sensitive assay for ornithine amino transferase in rat brain mitochondria by ninhydrin methodCorrection of ornithine accumulation prevents retinal degeneration in a mouse model of gyrate atrophy of the choroid and retina.Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.Defining DNA diagnostic tests appropriate or standard clinical careMolecular cloning and nucleotide sequence analysis of mRNA for human kidney ornithine aminotransferase. An examination of ornithine aminotransferase isozymes between liver and kidney.The ornithine aminotransferase (OAT) locus: analysis of RFLPs in gyrate atrophy.Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina.Gyrate atrophy of the choroid and retina: assignment of the ornithine aminotransferase structural gene to human chromosome 10 and mouse chromosome 7.Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.A polymorphic synonymous mutation in human ornithine-delta-aminotransferase (N378N)An initiator codon mutation in ornithine-delta-aminotransferase causing gyrate atrophy of the choroid and retina.Ornithine-δ-Aminotransferase Inhibits Neurogenesis During Xenopus Embryonic Development.The ornithine aminotransferase gene in gyrate atrophy of the retina: analysis of expression and gross structure of this gene in cultured fibroblasts.A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.Molecular genetic approaches to the analysis of human ophthalmic disease.The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.
P2860
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P2860
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
description
1986 nî lūn-bûn
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1986年の論文
@ja
1986年学术文章
@wuu
1986年学术文章
@zh
1986年学术文章
@zh-cn
1986年学术文章
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1986年学术文章
@zh-my
1986年学术文章
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1986年學術文章
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1986年學術文章
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name
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@en
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@nl
type
label
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@en
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@nl
prefLabel
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@en
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@nl
P2093
P356
P1433
P1476
Investigation of gyrate atrophy using a cDNA clone for human ornithine aminotransferase.
@en
P2093
P304
P356
10.1089/DNA.1.1986.5.493
P577
1986-12-01T00:00:00Z