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Seven new mutations in the human ornithine transcarbamylase gene.

作者信息

Tuchman M, Plante R J, McCann M T, Qureshi A A

机构信息

Department of Pediatrics, University of Minnesota Medical School, Minneapolis 55455.

出版信息

Hum Mutat. 1994;4(1):57-60. doi: 10.1002/humu.1380040109.

DOI:10.1002/humu.1380040109
PMID:7951259
Abstract
摘要

相似文献

1
Seven new mutations in the human ornithine transcarbamylase gene.人类鸟氨酸转氨甲酰酶基因中的七个新突变。
Hum Mutat. 1994;4(1):57-60. doi: 10.1002/humu.1380040109.
2
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.日本早发性鸟氨酸转氨甲酰酶（OTC）缺乏症男性患者中四个新发现的OTC突变（D126G、R129H、I172M和W332X）
Hum Mutat. 1994;3(4):402-6. doi: 10.1002/humu.1380030415.
3
Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.通过单链构象多态性检测到鸟氨酸转氨甲酰酶基因中的六个新突变。
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The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.
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[A new family with mutation of the structural gene of human ornithine carbamoyltransferase].[一个人类鸟氨酸氨甲酰基转移酶结构基因突变的新家族]
Arch Fr Pediatr. 1978 May;35(5):512-8.
6
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.在西班牙鸟氨酸转氨甲酰酶（OTC）缺乏症患者中鉴定出一种细胞遗传学缺失以及影响OTC基因的四个新突变（Q69X、I172F、G188V、G197R）。
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[DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
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Site specific screening for point mutations in ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症点突变的位点特异性筛查。
J Med Genet. 1992 Jul;29(7):471-5.
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[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].[人类鸟氨酸转氨甲酰酶基因新突变E122G的分子特征分析]
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Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
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