Molecular basis of ornithine aminotransferase defect in gyrate atrophy.
作者信息
Inana G, Hotta Y, Zintz C, Chambers C, Kennaway N G, Weleber R G, Nakajima A, Shiono T
机构信息
National Eye Institute, NIH, Bethesda, Maryland 20892.
出版信息
Prog Clin Biol Res. 1991;362:191-219.
PMID:1672235
Abstract
摘要
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Molecular basis of ornithine aminotransferase defect in gyrate atrophy.回旋状萎缩中鸟氨酸转氨酶缺陷的分子基础。
Prog Clin Biol Res. 1991;362:191-219.
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Molecular genetics of ornithine aminotransferase defect in gyrate atrophy.回旋状萎缩中鸟氨酸转氨酶缺陷的分子遗传学
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Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency.鸟氨酸转氨酶缺乏所致脉络膜视网膜回旋性萎缩的分子病理学
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[Molecular genetics of gyrate atrophy].[视网膜色素变性的分子遗传学]
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A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.鸟氨酸转氨酶（OAT）基因座第5外显子中的一个15碱基对缺失与回旋状萎缩相关。
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Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.视网膜色素变性中鸟氨酸转氨酶（OAT）基因的三种新突变。
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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.视网膜色素变性中鸟氨酸δ-氨基转移酶突变。等位基因异质性和功能后果。
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Hyperornithinemia associated with gyrate atrophy of the choroid and retina in a child with myopia.一名近视儿童患伴有脉络膜和视网膜回旋性萎缩的高鸟氨酸血症。
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