WT1 splice-site mutationDenamur EBocquet NMougenot BDa Silva FMartinat Let alJournal of the American Society of Nephrology
A splice site mutation is a gene mutation that alters nucleotides at splice control sequences, changing the patterns of RNA splicing. From: Clinical and Translational Science, 2009 About this pageSet alert Discover other topics On this page Definition Chapters and Articles Related Terms Recommended ...
. The intron splice site variant skipped exon 6, causing a frameshift mutation that resulted in a PTC. The SPAST gene encodes spastin and has an open reading frame with two start codons, leading to the synthesis of two different spastin isoforms, M1 (68 kDa) and M87 (60 kDa); M87 ...
Mutation type Splice site mutation Zygosity Homozygous Allelic Frequency 100% Transcript NM_000245.4 Cosmic ID N/A Chr position(GRCh37) N/A Buffer Tris-EDTA Product Information Intended Use Research Use Only Unit Size 1ug Concentration Download for COA Purofication ...
网络突变 网络释义 1. 突变 ...的改变(写成c.406-2A>G)造成基因接合处的突变(splice-site mutation),而导致mucolipin-1蛋白的制作提前终止。 gene.bhp.doh.gov.tw|基于2个网页
we identified a mutant fish that exhibits severe muscular dystrophy early in development. Genetic mapping identified a splice site mutation in the lama2 gene. This splice site is highly conserved in humans and this mutation results in mis-splicing of RNA and a loss of protein function. Homozygous...
基因检测标准品>Mutation> CBP10595AI-Edigene® MET Splice Site Mutation(c.2888-1 名称AI-Edigene® MET Splice Site Mutation(c.2888-1 型号CBP10595 报价 特点AI-Edigene MET Splice Site Mutation(c.2888-1G>A)Reference Standard 详细内容
Received24 June 2007 Accepted01 October 2007 Published01 February 2008 Issue DateFebruary 2008 DOIhttps://doi.org/10.1007/s10038-007-0209-3 Keywords DFNB49 TRIC Splice-site mutationSections Figures References Abstract References Acknowledgments Author information Rights and permissions About this article ...
Mutation type Substitution - Missense Zygosity Heterozygous Allelic Frequency 50% Type Splice_Site Transcript ENST00000380152 Cosmic ID N/A Chr position(GRCh37) chr13:32907526 Buffer: Tris-EDTA Product Information Intended Use Research Use Only Unit Size 1ug Concentratio...
1) splice site mutation 剪接位点突变 2) splice mutation 剪接突变 1. Identification of a novelsplice mutationof low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia; 家族性高胆固醇血症家系低密度脂蛋白受体基因剪接突变的研究 ...