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Molecular scanning methods of mutation detection.

作者信息

Rossiter B J, Caskey C T

机构信息

Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.

出版信息

J Biol Chem. 1990 Aug 5;265(22):12753-6.

PMID:2198276
Abstract
摘要

相似文献

1
Molecular scanning methods of mutation detection.
J Biol Chem. 1990 Aug 5;265(22):12753-6.
2
Detection and quantitation of heteroduplexes can increase the reliability in competitive polymerase chain reaction.异源双链体的检测和定量可以提高竞争性聚合酶链反应的可靠性。
Anal Biochem. 1999 Mar 15;268(2):398-401. doi: 10.1006/abio.1998.3049.
3
Enzymatic mutation detection. Procedure for screening and mapping of mutations by immobilised endonuclease VII.酶促突变检测。通过固定化核酸内切酶VII进行突变筛选和定位的方法。
Nucleic Acids Res. 1998 Feb 15;26(4):1132-3. doi: 10.1093/nar/26.4.1132.
4
Four novel germ-line mutations in the APC gene detected by heteroduplex analysis.通过异源双链分析检测到APC基因中的四个新的种系突变。
Hum Mol Genet. 1994 Jun;3(6):1023-4. doi: 10.1093/hmg/3.6.1023.
5
High-throughput TILLING for functional genomics.用于功能基因组学的高通量定向诱导基因组局部突变技术
Methods Mol Biol. 2003;236:205-20. doi: 10.1385/1-59259-413-1:205.
6
Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch.通过mRNA:cDNA序列错配的化学切割检测到因I型胶原蛋白α2(I)甘氨酸至精氨酸替代导致的致死性围生期成骨不全。
Hum Mutat. 1992;1(1):55-62. doi: 10.1002/humu.1380010109.
7
Molecular diagnosis of genetic diseases.
Clin Biochem. 1996 Jun;29(3):201-8. doi: 10.1016/0009-9120(95)02022-e.
8
Detection of known mutation by proof-reading PCR.通过校对PCR检测已知突变。
Nucleic Acids Res. 1998 Jun 15;26(12):3073-5. doi: 10.1093/nar/26.12.3073.
9
Conformation-sensitive gel electrophoresis for detecting BRCA1 mutations.用于检测BRCA1基因突变的构象敏感凝胶电泳
Methods Mol Biol. 2003;223:403-12. doi: 10.1385/1-59259-329-1:403.
10
The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis.
Hum Genet. 1994 Dec;94(6):621-3. doi: 10.1007/BF00206954.

引用本文的文献

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Identification of point mutations in 41 unrelated patients affected with Menkes disease.对41名患门克斯病的非亲属患者的点突变进行鉴定。
Am J Hum Genet. 1997 Jan;60(1):63-71.
2
Diagnosis of human genetic disease using recombinant DNA. Fourth edition.《利用重组DNA技术诊断人类遗传病》第四版
Hum Genet. 1993 Oct 1;92(3):211-36. doi: 10.1007/BF00244464.
3
Mapping mutations in genes encoding the two large subunits of Drosophila RNA polymerase II defines domains essential for basic transcription functions and for proper expression of developmental genes.
绘制果蝇RNA聚合酶II两个大亚基编码基因中的突变图谱,确定了基本转录功能以及发育基因正确表达所必需的结构域。
Mol Cell Biol. 1993 Jul;13(7):4214-22. doi: 10.1128/mcb.13.7.4214-4222.1993.
4
Database of p53 gene somatic mutations in human tumors and cell lines.人类肿瘤和细胞系中p53基因体细胞突变数据库。
Nucleic Acids Res. 1994 Sep;22(17):3551-5.
5
Variant forms of glucokinase gene in Japanese patients with late-onset type 2 diabetes.
Acta Diabetol. 1994 Dec;31(4):238-41. doi: 10.1007/BF00571959.
6
Screening for mutations in exon 4 of the LDL receptor gene in a German population with severe hypercholesterolemia.对德国严重高胆固醇血症人群的低密度脂蛋白受体基因第4外显子突变进行筛查。
Hum Genet. 1995 Sep;96(3):301-4. doi: 10.1007/BF00210411.
7
Detection of CYP1A1 gene polymorphism using designed RFLP and distributions of CYP1A1 genotypes in Japanese.利用设计的限制性片段长度多态性(RFLP)检测CYP1A1基因多态性及CYP1A1基因型在日本人中的分布。
Int Arch Occup Environ Health. 1995;67(4):253-6. doi: 10.1007/BF00409407.
8
Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene.通过错配结合蛋白MutS检测扩增DNA中的突变:应用于囊性纤维化基因
Proc Natl Acad Sci U S A. 1994 Mar 29;91(7):2674-8. doi: 10.1073/pnas.91.7.2674.
9
Mutant profiles of selectable genetic elements.
Proc Natl Acad Sci U S A. 1991 Nov 15;88(22):9909-13. doi: 10.1073/pnas.88.22.9909.
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Diagnosis of genetic disease using recombinant DNA. Third edition.
Hum Genet. 1991 Sep;87(5):519-60. doi: 10.1007/BF00209011.