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） - Suppr

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超能文献

Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.

作者信息

Matsuura T, Hoshide R, Kiwaki K, Komaki S, Koike E, Endo F, Oyanagi K, Suzuki Y, Kato I, Ishikawa K

机构信息

Department of Pediatrics, Kumamoto University School of Medicine, Japan.

出版信息

Hum Mutat. 1994;3(4):402-6. doi: 10.1002/humu.1380030415.

DOI:10.1002/humu.1380030415

PMID:8081398

Abstract

摘要

相似文献

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.

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.

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.

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。

Pediatr Res. 1992 Nov;32(5):600-4. doi: 10.1203/00006450-199211000-00024.

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）。

Hum Mutat. 1999 Oct;14(4):352-3. doi: 10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D.

[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]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Feb;20(1):19-22.

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.

Single-strand conformational polymorphism and direct sequencing applied to carrier testing in families with ornithine transcarbamylase deficiency.单链构象多态性和直接测序法应用于鸟氨酸转氨甲酰酶缺乏症家庭的携带者检测。

Hum Genet. 1993 May;91(4):321-5. doi: 10.1007/BF00217350.

Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.对五名日本鸟氨酸转氨甲酰酶（OTC）缺乏症患者的OTC基因进行突变分析，发现了两个已知突变和三个新突变，其中包括一个内含子深处的突变。

Kobe J Med Sci. 2007;53(5):229-40.

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.在鸟氨酸转氨甲酰酶（OTC）缺乏症患者中鉴定出该基因的七个新错义突变、两个剪接位点突变、两个微缺失和一个多态性氨基酸替代。

Hum Mutat. 2002 Feb;19(2):185-6. doi: 10.1002/humu.9011.

引用本文的文献

Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.鸟氨酸转氨甲酰酶缺乏症的致病变体：日本全国性研究及文献综述

Front Genet. 2022 Oct 11;13:952467. doi: 10.3389/fgene.2022.952467. eCollection 2022.

Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.尿中尿嘧啶：男性鸟氨酸氨甲酰基转移酶缺乏症的有用标志物。

Clin Chem. 2020 Jul 1;66(7):988-989. doi: 10.1093/clinchem/hvaa101.

Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).鸟氨酸转氨甲酰酶缺乏症（OTCD）中急性肝衰竭的发生率及病理生理学

PLoS One. 2016 Apr 12;11(4):e0153358. doi: 10.1371/journal.pone.0153358. eCollection 2016.

Two novel mutations of ornithine transcarbamylase gene identified from three Chinese neonates with ornithine transcarbamylase deficiency.从三名患有鸟氨酸转氨甲酰酶缺乏症的中国新生儿中鉴定出鸟氨酸转氨甲酰酶基因的两种新突变。

Int J Clin Exp Med. 2015 Feb 15;8(2):2656-61. eCollection 2015.

Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man.小鼠和人类鸟氨酸转氨甲酰酶缺乏症中spf/ash剪接变异的功能特征

PLoS One. 2015 Apr 8;10(4):e0122966. doi: 10.1371/journal.pone.0122966. eCollection 2015.

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.携带突变型鸟氨酸转氨甲酰酶（OTC）等位基因Arg40His的男性患者的表型变异性，范围从预后不良的儿童到无症状的老年成年人。

J Med Genet. 1996 Aug;33(8):645-8. doi: 10.1136/jmg.33.8.645.

Identification of four novel splice site mutations in the ornithine transcarbamylase gene.鸟氨酸转氨甲酰酶基因中四个新剪接位点突变的鉴定。

Hum Genet. 1996 Feb;97(2):209-13. doi: 10.1007/BF02265267.

A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.

Hum Genet. 1995 Nov;96(5):549-51. doi: 10.1007/BF00197410.

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