Splice (junction) mutation is a mutation that alters the junction between an intron and an exon so that it no longer functions properly, and often leads to exon skipping or premature translation...Springer Berlin HeidelbergEncyclopedic Reference of Genomics & Proteomics in Molecular Medicine...
A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb mRNA, and type II Glanzmann's thrombasthenia. J Thromb Haemost. 2003; 1 :1071–1078.Gonzalez-Manchon C, Arias-Salgado EG, Butta N, Martin G, Rodriguez RB, Elalamy I, ...
junction in a Japanese patient suffering from severe FXIII deficiency which lead to the elimination of splicing donor site and subsequent impairment of normal pre-mRNA processing [212]. Recently,Junget al. identified a homozygous intronic mutation (c.799-12G > A) in theF13A1gene by whole ...
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danl... A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro a 1(V) chains results in the...
[英 [splaɪs] 美 [splaɪs] ] splice的意思、解释 过去式:spliced; 过去分词:spliced; 现在分词:splicing; splice 基本解释 及物动词绞接; 捻接(两段绳子); 胶接; 粘接(胶片、磁带等) 名词胶接处,粘接处,铰接处 splice 相关词组 1. sit on the splice : 小心地取守势; ...
1.active mRNA that results from cutting and resealing or a RNA transcript by precise breakage of phosphodiester bonds at the 5' and 3' splice sites (exon-intron junction); 2.a recombinant DNA molecule derived from cutting and resealing of DNA from different sources. ...
The mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has three major clinical subtypes (severe Hurler syndrome, intermediate Hurler–Scheie syndro
We have identified a DSPP splice junction mutation (IVS2-6T>G) in a family with dentin dysplasia type II. The primary dentition is discolored brown with severe attrition. The mildly discolored permanent dentition has thistle-shaped pulp chambers, pulp stones, and eventual pulp obliteration. The ...
sh1 reference mutant sh1-912A ( shrunken-912A ) had a single transversion at the 3′ splice junction of the second intron resulting in a mis-splicing site causing the 13-bp spliced out in the third exon and the initiation codon to shift to 118-bp downstream. Further genetic allelism ...
In this study, we report a consanguineous family with three affected individuals with the typical form of EV with a splice junction mutation in CIB1. The consequences of the mutation were investigated with RNA sequencing (RNA-seq) and differential gene expression heatmap analysis, which showed a...