Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
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Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric ModulatorsAnalysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among CaucasiansCFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X.Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma.Correction of genetic disease by making sense from nonsense.Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial.Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population.Relationship of a non-cystic fibrosis transmembrane conductance regulator-mediated chloride conductance to organ-level disease in Cftr(-/-) miceNext generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population.Uptake of cystic fibrosis testing in primary care: supply push or demand pull?Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite populationEthnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families.CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens.Assessing the Disease-Liability of Mutations in CFTRRecent advances in cystic fibrosis.Active cascade testing for carriers of cystic fibrosis gene.Mutation spectrum of Egyptian children with cystic fibrosis.Development, clinical utility, and place of ivacaftor in the treatment of cystic fibrosis.Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.Cystic fibrosis carrier screening: comparability of data and uniformity of testing.Two CF patients, one homozygous for the 621 + 1G > T splice mutation, the other homozygous for the 1898 + 1G > A splice mutation.Association of 1078 del T cystic fibrosis mutation with severe disease.Mutation analysis in 600 French cystic fibrosis patients.Cystic fibrosis genotypes and views on screening are both heterogeneous and population related.Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.
P2860
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P2860
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease
description
1992 nî lūn-bûn
@nan
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Association of a nonsense muta ...... presentation of severe disease
@en
type
label
Association of a nonsense muta ...... presentation of severe disease
@en
prefLabel
Association of a nonsense muta ...... presentation of severe disease
@en
P2093
P2860
P1476
Association of a nonsense muta ...... presentation of severe disease
@en
P2093
Augarten A
Shoshani T
P2860
P304
P407
P577
1992-01-01T00:00:00Z