Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skippingA common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesiaRescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770Evaluating candidate agents of selective pressure for cystic fibrosisInstability of the insertional mutation in CftrTgH(neoim)Hgu cystic fibrosis mouse modelSurvey of CF mutations in the clinical laboratory.Direct molecular haplotyping by melting curve analysis of hybridization probes: beta 2-adrenergic receptor haplotypes as an exampleAsthma and COPD in cystic fibrosis intron-8 5T carriers. A population-based studyCFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patientsThe silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunctionAssociation of hsp70 polymorphisms with risk of noise-induced hearing loss in Chinese automobile workers.Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftorSpontaneous rescue from cystic fibrosis in a mouse model.Rapid and reliable genotyping of polymorphic loci modifying correct splicing of CFTR pre-mRNA using mass spectrometry.The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.Cystic fibrosis in Korean children:a case report identified by a quantitative pilocarpine iontophoresis sweat test and genetic analysis.Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practiceScreening practices for mutations in the CFTR gene ABCC7.Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benignCystic fibrosis transmembrane conductance regulator gene mutation and lung cancer risk.Genetic predisposition to diffuse panbronchiolitis.What is a microsatellite: a computational and experimental definition based upon repeat mutational behavior at A/T and GT/AC repeatsBest practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendationsExhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease.p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study.Association of CFTR gene variants with nontuberculous mycobacterial lung disease in a Korean population with a low prevalence of cystic fibrosis.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: the role of modifier genes.Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.Chronic obstructive pulmonary disease. 1: Susceptibility factors for COPD the genotype-environment interactionBlock by fluoxetine of volume-regulated anion channels.Chlorotoxin does not inhibit volume-regulated, calcium-activated and cyclic AMP-activated chloride channels.The in vitro fidelity of yeast DNA polymerase δ and polymerase ε holoenzymes during dinucleotide microsatellite DNA synthesis.SNaPshot assay for the detection of the most common CFTR mutations in infertile men.Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.A haplotype framework for cystic fibrosis mutations in IranFunctional characteristics of L1156F-CFTR associated with alcoholic chronic pancreatitis in Japanese.Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on January 1998
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Polyvariant mutant cystic fibr ...... orphism as a disease mutation.
@en
Polyvariant mutant cystic fibr ...... gulator genes. The polymorphic
@nl
type
label
Polyvariant mutant cystic fibr ...... orphism as a disease mutation.
@en
Polyvariant mutant cystic fibr ...... gulator genes. The polymorphic
@nl
prefLabel
Polyvariant mutant cystic fibr ...... orphism as a disease mutation.
@en
Polyvariant mutant cystic fibr ...... gulator genes. The polymorphic
@nl
P2093
P2860
P356
P1476
Polyvariant mutant cystic fibr ...... orphism as a disease mutation.
@en
P2093
Cassiman JJ
Droogmans G
Goossens M
Jorissen M
Reynaert I
P2860
P304
P356
10.1172/JCI639
P407
P577
1998-01-01T00:00:00Z