Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.
作者信息
Bateman J B
机构信息
Vision Genetics Center, Jules Stein Eye Institute, UCLA School of Medicine.
出版信息
Trans Am Ophthalmol Soc. 1992;90:405-79.
Abstract
摘要
相似文献
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Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase.诺里病与X染色体鸟氨酸转氨酶的连锁分析。
Trans Am Ophthalmol Soc. 1992;90:405-79.
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Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.诺里病与X染色体鸟氨酸转氨酶基因座的连锁分析。
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Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.
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Ornithine aminotransferase (OAT): recombination between an X-linked OAT sequence (7.5 kb) and the Norrie disease locus.
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The ornithine aminotransferase (OAT) locus is linked and distal to D10S20 on the long arm of chromosome 10.鸟氨酸转氨酶（OAT）基因座与10号染色体长臂上的D10S20相连且位于其远端。
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Microdeletion in the X-chromosome and prenatal diagnosis in a family with Norrie disease.诺里病家族中的X染色体微缺失及产前诊断
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Prenatal exclusion of Norrie disease with flanking DNA markers.利用侧翼DNA标记对诺里病进行产前排除。
Am J Med Genet. 1988 Oct;31(2):449-53. doi: 10.1002/ajmg.1320310225.
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Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm.
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X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus.
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Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
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引用本文的文献
1
Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus.诺里病与X染色体鸟氨酸转氨酶基因座的连锁分析。
Trans Am Ophthalmol Soc. 1993;91:299-307; discussion 307-8.
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Sex-linked Microphthalmia and Mental Deficiency.性连锁小眼症与智力缺陷
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The reduction of methaemoglobin in red blood cells and studies on the cause of idiopathic methaemoglobinaemia.红细胞中高铁血红蛋白的减少及特发性高铁血红蛋白血症病因的研究
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