Functional analysis of splicing mutations in exon 7 of NF1 gene
about
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricleStudy of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutationsFunctional Analysis of Mutations in Exon 9 of NF1 Reveals the Presence of Several Elements Regulating SplicingThe contribution of GPR98 and DFNB31 genes to a Spanish Usher syndrome type 2 cohort.A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene.Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.Functional analysis of splicing mutations in MYO7A and USH2A genes.A novel mutation in exon 9 of Cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II.
P2860
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P2860
Functional analysis of splicing mutations in exon 7 of NF1 gene
description
2007 nî lūn-bûn
@nan
2007 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Functional analysis of splicing mutations in exon 7 of NF1 gene
@ast
Functional analysis of splicing mutations in exon 7 of NF1 gene
@en
Functional analysis of splicing mutations in exon 7 of NF1 gene.
@nl
type
label
Functional analysis of splicing mutations in exon 7 of NF1 gene
@ast
Functional analysis of splicing mutations in exon 7 of NF1 gene
@en
Functional analysis of splicing mutations in exon 7 of NF1 gene.
@nl
prefLabel
Functional analysis of splicing mutations in exon 7 of NF1 gene
@ast
Functional analysis of splicing mutations in exon 7 of NF1 gene
@en
Functional analysis of splicing mutations in exon 7 of NF1 gene.
@nl
P2093
P2860
P50
P356
P1433
P1476
Functional analysis of splicing mutations in exon 7 of NF1 gene
@en
P2093
Alessandro De Luca
Annalisa Schirinzi
Irene Bottillo
Isabella Torrente
Lidia Larizza
Valentina Guida
P2860
P2888
P356
10.1186/1471-2350-8-4
P577
2007-02-12T00:00:00Z
P5875
P6179
1009872986