鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鸟氨酸氨甲酰基转移酶（OCT）的生化异质性。 - Suppr

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超能文献

Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency.

作者信息

Matsuda I, Nagata N, Ohyanagi K, Tsuchiyama A, Yamamoto H, Hase Y, Kodama H, Kai Y

出版信息

Jinrui Idengaku Zasshi. 1984 Sep;29(3):327-33. doi: 10.1007/BF01871248.

DOI:10.1007/BF01871248

PMID:6442743

Abstract

摘要

相似文献

Biochemical heterogeneity of ornithine carbamoyl transferase(OCT) in patients with OCT deficiency.鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鸟氨酸氨甲酰基转移酶（OCT）的生化异质性。

Jinrui Idengaku Zasshi. 1984 Sep;29(3):327-33. doi: 10.1007/BF01871248.

Some kinetic properites of liver ornithine carbamoyl transferase (OCT) in a patient with OCT deficiency.鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者肝脏中OCT的一些动力学特性

Clin Chim Acta. 1977 Nov 1;80(3):519-27. doi: 10.1016/0009-8981(77)90146-2.

Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.一名患有鸟氨酸氨甲酰基转移酶缺乏症的女孩中精氨酸109突变为谷氨酰胺

J Med Genet. 1991 Dec;28(12):871-4. doi: 10.1136/jmg.28.12.871.

Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.

Adv Exp Med Biol. 1982;153:53-62. doi: 10.1007/978-1-4757-6903-6_8.

Ornithine transcarbamylase deficiencies in human males. Kinetic and immunochemical classification.人类男性中的鸟氨酸转氨甲酰酶缺乏症。动力学和免疫化学分类。

Biochim Biophys Acta. 1982 May 21;704(1):100-6. doi: 10.1016/0167-4838(82)90136-4.

Toward a molecular understanding of ornithine transcarbamylase deficiency.迈向对鸟氨酸转氨甲酰酶缺乏症的分子理解。

Adv Neurol. 1988;48:71-81.

Immunochemical study of ornithine transcarbamylase deficiency.

J Inherit Metab Dis. 1984;7(3):131-2. doi: 10.1007/BF01801772.

The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.

Hum Mutat. 1994;3(3):318-20. doi: 10.1002/humu.1380030325.

Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.在两名早发性和晚发性鸟氨酸氨甲酰基转移酶（OCT）缺乏症患者中鉴定出OCT基因的两种新的异常剪接。

J Inherit Metab Dis. 1995;18(3):273-82. doi: 10.1007/BF00710415.

The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.

J Lab Clin Med. 1992 Dec;120(6):836-50.

引用本文的文献

Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.通过DNA分析对两个家族中的鸟氨酸转氨甲酰酶缺乏症进行产前监测。

J Inherit Metab Dis. 1993;16(1):31-8. doi: 10.1007/BF00711312.

Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

J Inherit Metab Dis. 1993;16(5):857-62. doi: 10.1007/BF00714278.

Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.四种突变型人鸟氨酸转氨甲酰酶基因在培养的Cos 1细胞中的表达与临床表型相关。

Hum Genet. 1994 Feb;93(2):129-34. doi: 10.1007/BF00210596.

J Inherit Metab Dis. 1995;18(3):273-82. doi: 10.1007/BF00710415.

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.两名患有轻度鸟氨酸转氨甲酰酶缺乏症的无关男性患者中，鸟氨酸转氨甲酰酶基因第8外显子出现一种新的错义突变。

Hum Genet. 1991 May;87(1):28-32. doi: 10.1007/BF01213087.

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