人类鸟氨酸转氨甲酰酶基因的结构组织 - Suppr

Suppr

超能文献

Structural organization of the human ornithine transcarbamylase gene.

作者信息

Hata A, Tsuzuki T, Shimada K, Takiguchi M, Mori M, Matsuda I

机构信息

Department of Biochemistry, Kumamoto University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1988;11(3):337-40. doi: 10.1007/BF01800388.

DOI:10.1007/BF01800388

PMID:3148085

Abstract

摘要

相似文献

Structural organization of the human ornithine transcarbamylase gene.人类鸟氨酸转氨甲酰酶基因的结构组织

J Inherit Metab Dis. 1988;11(3):337-40. doi: 10.1007/BF01800388.

Ornithine transcarbamylase deficiency: a model for gene therapy.鸟氨酸转氨甲酰酶缺乏症：基因治疗的一个模型。

Adv Exp Med Biol. 1994;368:145-54. doi: 10.1007/978-1-4615-1989-8_15.

[Ornithine transcarbamylase deficiency].鸟氨酸转氨甲酰酶缺乏症

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):500-4.

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.先天性高氨血症中鸟氨酸转氨甲酰酶基因的部分重复[重复序列为TCAC(178)]及新的点突变(T125M、G188R、A209V和H302L)

Hum Mutat. 1996;8(1):74-6. doi: 10.1002/(SICI)1098-1004(1996)8:1<74::AID-HUMU11>3.0.CO;2-O.

Ornithine transcarbamylase polymorphism detected by PCR introduction of DraI site.通过PCR引入DraI酶切位点检测鸟氨酸转氨甲酰酶多态性。

Nucleic Acids Res. 1991 Feb 11;19(3):690. doi: 10.1093/nar/19.3.690.

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.

Ornithine transcarbamylase (OTC) deficiency in a female patient with a de nova deletion of the paternal X chromosome.

Hum Genet. 1992 Aug;89(6):632-4. doi: 10.1007/BF00221953.

Sex-linkage of the chicken ornithine transcarbamylase gene.

Hereditas. 1993;118(1):1-5. doi: 10.1111/j.1601-5223.1993.t01-3-00001.x.

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。

Proc Natl Acad Sci U S A. 1989 Jun;86(11):4142-6. doi: 10.1073/pnas.86.11.4142.

引用本文的文献

Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.韩国家族中鸟氨酸转氨甲酰酶（OTC）基因新突变的鉴定。

J Inherit Metab Dis. 1996;19(1):31-42. doi: 10.1007/BF01799346.

Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns [corrected].5例日本男性新生儿或迟发性鸟氨酸转氨甲酰酶缺乏症患者中的4种新基因突变：聚合酶链反应-单链构象多态性在外显子及相邻内含子中的应用[已修正]

Hum Genet. 1993 Aug;92(1):49-56. doi: 10.1007/BF00216144.

Study of a female patient with ornithine transcarbamylase deficiency: detection of a nonsense mutation.一名鸟氨酸转氨甲酰酶缺乏症女性患者的研究：一种无义突变的检测。

J Inherit Metab Dis. 1989;12(3):347-50. doi: 10.1007/BF01799239.

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.

本文引用的文献

Partial ornithine transcarbamylase deficiency simulating Reye syndrome.

J Pediatr. 1981 Dec;99(6):929-31. doi: 10.1016/s0022-3476(81)80025-x.

Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase.人线粒体鸟氨酸转氨甲酰酶核编码前体的互补DNA的结构与表达

Science. 1984 Jun 8;224(4653):1068-74. doi: 10.1126/science.6372096.

Molecular cloning and nucleotide sequence of cDNA for rat ornithine carbamoyltransferase precursor.大鼠鸟氨酸氨甲酰基转移酶前体的cDNA的分子克隆及核苷酸序列

Proc Natl Acad Sci U S A. 1984 Dec;81(23):7412-6. doi: 10.1073/pnas.81.23.7412.

A cDNA clone for the precursor of rat mitochondrial ornithine transcarbamylase: comparison of rat and human leader sequences and conservation of catalytic sites.大鼠线粒体鸟氨酸转氨甲酰酶前体的cDNA克隆：大鼠与人前导序列的比较及催化位点的保守性

Nucleic Acids Res. 1985 Feb 11;13(3):943-52. doi: 10.1093/nar/13.3.943.

Isolation and characterization of the human ornithine transcarbamylase gene: structure of the 5'-end region.人鸟氨酸转氨甲酰酶基因的分离与鉴定：5′端区域结构

J Biochem. 1986 Sep;100(3):717-25. doi: 10.1093/oxfordjournals.jbchem.a121764.

Dideoxy sequencing method using denatured plasmid templates.使用变性质粒模板的双脱氧测序法。

Anal Biochem. 1986 Feb 1;152(2):232-8. doi: 10.1016/0003-2697(86)90403-3.

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症的新突变与产前诊断

Am J Hum Genet. 1986 Feb;38(2):149-58.

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia.用于镰状细胞贫血诊断的β-珠蛋白基因组序列的酶促扩增及限制性酶切位点分析。

Science. 1985 Dec 20;230(4732):1350-4. doi: 10.1126/science.2999980.

Improved M13 phage cloning vectors and host strains: nucleotide sequences of the M13mp18 and pUC19 vectors.改良的M13噬菌体克隆载体和宿主菌株：M13mp18和pUC19载体的核苷酸序列。

Gene. 1985;33(1):103-19. doi: 10.1016/0378-1119(85)90120-9.

Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus.

Nature. 1985;313(6005):815-7. doi: 10.1038/313815a0.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验