The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
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SEPTIN12 genetic variants confer susceptibility to teratozoospermiaNuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingMolecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaAsthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based studySpontaneous rescue from cystic fibrosis in a mouse model.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceAssessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.The pathogenic consequences of a single mutated CFTR gene.Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier.Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's diseaseRestoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation.The allele-specific suppressor sup-39 alters use of cryptic splice sites in Caenorhabditis elegans.CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] alleleRelative expression of a dominant mutated ABCC8 allele determines the clinical manifestation of congenital hyperinsulinism.Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial.The magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurementsAn intronic ABCA3 mutation that is responsible for respiratory diseaseA human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.Cystic fibrosis genetics: from molecular understanding to clinical application.SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.Estimating the prevalence of functional exonic splice regulatory information.CELF proteins regulate CFTR pre-mRNA splicing: essential role of the divergent domain of ETR-3.Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
P2860
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P2860
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@ast
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@en
type
label
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@ast
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@en
prefLabel
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@ast
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis.
@en
P2093
P2860
P1476
The molecular basis of partial penetrance of splicing mutations in cystic fibrosis
@en
P2093
Augarten A
Nissim-Rafinia M
Rave-Harel N
P2860
P407
P577
1997-01-01T00:00:00Z