两种与I型遗传性酪氨酸血症相关的新突变。 - Suppr

Suppr

超能文献

Two novel mutations involved in hereditary tyrosinemia type I.

作者信息

St-Louis M, Poudrier J, Phaneuf D, Leclerc B, Laframboise R, Tanguay R M

机构信息

Laboratoire de Génétique Cellulaire et Développementale, Université Laval, Ste-Foy, Québec, Canada.

出版信息

Hum Mol Genet. 1995 Feb;4(2):319-20. doi: 10.1093/hmg/4.2.319.

DOI:10.1093/hmg/4.2.319

PMID:7757089

Abstract

摘要

相似文献

Two novel mutations involved in hereditary tyrosinemia type I.两种与I型遗传性酪氨酸血症相关的新突变。

Hum Mol Genet. 1995 Feb;4(2):319-20. doi: 10.1093/hmg/4.2.319.

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I.在五名患有I型遗传性酪氨酸血症的芬兰患者中鉴定出一个终止突变。

Hum Mol Genet. 1994 Jan;3(1):69-72. doi: 10.1093/hmg/3.1.69.

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.I型遗传性酪氨酸血症患者富马酰乙酰乙酸水解酶基因中的六个新突变。

Hum Mutat. 1996;7(4):367-9. doi: 10.1002/(SICI)1098-1004(1996)7:4<367::AID-HUMU14>3.0.CO;2-0.

Rapid nonradioactive assay for the detection of the common French Canadian tyrosinemia type I mutation.用于检测常见的法裔加拿大人I型酪氨酸血症突变的快速非放射性检测法。

Hum Mutat. 1995;5(1):105. doi: 10.1002/humu.1380050117.

A single mutation of the fumarylacetoacetate hydrolase gene in French Canadians with hereditary tyrosinemia type I.法裔加拿大人遗传性I型酪氨酸血症患者中富马酰乙酰乙酸水解酶基因的单一突变。

N Engl J Med. 1994 Aug 11;331(6):353-7. doi: 10.1056/NEJM199408113310603.

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene.1型酪氨酸血症——延胡索酰乙酰乙酸酶基因中的复杂剪接缺陷和一个错义突变

Hum Genet. 1994 Sep;94(3):235-9. doi: 10.1007/BF00208276.

Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I.四名I型酪氨酸血症患者的延胡索酰乙酰乙酸水解酶基因突变

Hum Mutat. 1993;2(2):85-93. doi: 10.1002/humu.1380020205.

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.1型遗传性酪氨酸血症：人延胡索酰乙酰乙酸水解酶基因中的新型错义、无义及剪接共有序列突变；基因型-表型关系的变异性

Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833.

Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.遗传性I型酪氨酸血症。富马酰乙酰乙酸酶缺陷的自我纠正。

J Clin Invest. 1993 Apr;91(4):1816-21. doi: 10.1172/JCI116393.

Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.两个错义突变导致1型酪氨酸血症，伴有或不伴有免疫反应性延胡索酰乙酰乙酸酶。

Hum Genet. 1994 Jun;93(6):615-9. doi: 10.1007/BF00201558.

引用本文的文献

Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.遗传性1型酪氨酸血症中富马酰乙酰乙酸水解酶基因突变的地理和种族分布

JIMD Rep. 2015;19:43-58. doi: 10.1007/8904_2014_363. Epub 2015 Feb 15.

Point mutations in the murine fumarylacetoacetate hydrolase gene: Animal models for the human genetic disorder hereditary tyrosinemia type 1.小鼠延胡索酰乙酰乙酸水解酶基因中的点突变：人类遗传性1型酪氨酸血症遗传疾病的动物模型。

Proc Natl Acad Sci U S A. 2001 Jan 16;98(2):641-5. doi: 10.1073/pnas.98.2.641.

Deficient DNA-ligase activity in the metabolic disease tyrosinemia type I.代谢性疾病I型酪氨酸血症中DNA连接酶活性不足。

Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12614-8. doi: 10.1073/pnas.95.21.12614.

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