Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
about
Analysis of Complement C3 Gene Reveals Susceptibility to Severe PreeclampsiaSevere alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadridComparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.Functional classification of BRCA2 DNA variants by splicing assays in a large minigene with 9 exonsFunctional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.A dynamic intron retention program enriched in RNA processing genes regulates gene expression during terminal erythropoiesis.Sequence variation between 462 human individuals fine-tunes functional sites of RNA processingA Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA.Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses.Impact of germline and somatic BRCA1/2 mutations: tumor spectrum and detection platforms.Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.Capillary electrophoresis analysis of conventional splicing assays: IARC analytical and clinical classification of 31 BRCA2 genetic variants.Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.
P2860
Q33734495-A8AA0E35-81A9-41AB-9E95-44B3944DF311Q34325994-8F929B02-A473-4848-ADD0-9A58E12F7A37Q34603197-E553973A-30B4-4004-84FA-BC30FDDAB060Q35211713-42FF3C65-7EF2-43E5-A898-4EEC519BBC4EQ36322003-46AF4E44-0F19-4320-BB27-4878A5BF859AQ36532639-095C0EF4-3490-44C9-ABFD-90E4F405D5D9Q37248390-73BA2504-C34F-4682-9231-7209CE633612Q37534958-9D1CC7F4-D194-40E1-908E-0A3CE7BDF75CQ38971197-6ECBA1CB-6250-4C43-A8F4-67AA936AC7AEQ39969865-29AC4AAC-D277-4A45-8AEE-29BA1EA6C3BCQ42094386-A5711FEC-3150-4736-8684-FB41F9E1473FQ45870377-1E40D4C7-C8A6-4923-A939-F0F8301330A7Q47777780-FFD03FFD-7C56-4C71-A0B8-C10B43DE917EQ53101648-94CEBD46-8DC7-4A32-8E74-7EC0557AB032Q54917737-69EBCE77-4FE1-4449-BA6F-6C52B4329128Q55609784-614636A7-8BFA-4153-AD71-6C352672675B
P2860
Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@ast
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@en
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@nl
type
label
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@ast
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@en
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@nl
prefLabel
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@ast
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@en
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@nl
P2093
P2860
P50
P3181
P356
P1476
Comprehensive splicing functio ...... BRCA2 gene by hybrid minigenes
@en
P2093
Alberto Acedo
Cristina Miner
David J Sanz
P2860
P2888
P3181
P356
10.1186/BCR3202
P577
2012-05-25T00:00:00Z
P5875
P6179
1027444621