Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.

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作者信息

Strautnieks S, Malcolm S

机构信息

Unit of Molecular Genetics, Institute of Child Health, London, UK.

出版信息

Hum Mol Genet. 1993 Nov;2(11):1963-4. doi: 10.1093/hmg/2.11.1963.

DOI:10.1093/hmg/2.11.1963

PMID:8281162

Abstract

摘要

相似文献

Novel mutation affecting a splice site in exon 4 of the ornithine carbamoyl transferase gene.

Hum Mol Genet. 1993 Nov;2(11):1963-4. doi: 10.1093/hmg/2.11.1963.

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.

A novel arginine (245) to glutamine change in exon 8 of the ornithine carbamoyl transferase gene in two unrelated children presenting with late onset deficiency and showing the same enzymatic pattern.在两个无关儿童中，鸟氨酸氨甲酰基转移酶基因第8外显子出现一种新的从精氨酸（245位）到谷氨酰胺的变化，这两个儿童表现为迟发性缺乏且具有相同的酶学模式。

Hum Mol Genet. 1994 May;3(5):831-2. doi: 10.1093/hmg/3.5.831.

The spfash mouse: a missense mutation in the ornithine transcarbamylase gene also causes aberrant mRNA splicing.spfash小鼠：鸟氨酸转氨甲酰酶基因中的错义突变也会导致异常的mRNA剪接。

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

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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.

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.使用基因特异性探针进行鸟氨酸氨甲酰基转移酶缺乏症的产前诊断。

J Med Genet. 1985 Dec;22(6):462-5. doi: 10.1136/jmg.22.6.462.

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.

Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.

Hum Mutat. 1998;Suppl 1:S5-7. doi: 10.1002/humu.1380110103.

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.

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.

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.

Demonstration of the spf-ash mutation in Spanish patients with ornithine transcarbamylase deficiency of moderate severity.西班牙中度严重鸟氨酸转氨甲酰酶缺乏症患者中spf-ash突变的证实。

Hum Genet. 1995 Feb;95(2):183-6. doi: 10.1007/BF00209398.

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