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。 - Suppr

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超能文献

Six novel mutations in the fumarylacetoacetate hydrolase gene of patients with hereditary tyrosinemia type I.

作者信息

Timmers C, Grompe M

机构信息

Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201, USA.

出版信息

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

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

PMID:8723690

Abstract

摘要

相似文献

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.

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.

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.

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.

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.

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.

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.

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.

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries.西北欧和地中海国家1型酪氨酸血症患者延胡索酰乙酰乙酸水解酶基因突变谱

Hum Mutat. 1998;12(1):19-26. doi: 10.1002/(SICI)1098-1004(1998)12:1<19::AID-HUMU3>3.0.CO;2-3.

Fumarylacetoacetase mutations in tyrosinaemia type I.I型酪氨酸血症中的富马酰乙酰乙酸酯酶突变

Hum Mutat. 1996;7(3):239-43. doi: 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5.

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.

Therapeutic trials in the murine model of hereditary tyrosinaemia type I: a progress report.I型遗传性酪氨酸血症小鼠模型的治疗试验：进展报告。

J Inherit Metab Dis. 1998 Aug;21(5):518-31. doi: 10.1023/a:1005462804271.

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