Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
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The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyriaSuccinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patientInactivation of a novel neuropeptide Y/peptide YY receptor gene in primate speciesIdentification of VAV2 on 9q34 and its exclusion as the tuberous sclerosis gene TSC1Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helixSequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1.Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyriaPremature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosaHomozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 geneParoxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A geneA mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindredsA nonsense mutation in the apolipoprotein C-IIPadova gene in a patient with apolipoprotein C-II deficiencyNonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edemaMutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenesMolecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complexA GFP-based reporter system to monitor nonsense-mediated mRNA decayMolecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutationsA gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B geneDual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob geneOverexpression of HuR, a nuclear-cytoplasmic shuttling protein, increases the in vivo stability of ARE-containing mRNAs.Novel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice.Nine cystic fibrosis patients homozygous for the CFTR nonsense mutation R1162X have mild or moderate lung disease.Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.Analysis of autoregulation at the level of pre-mRNA splicing of the suppressor-of-white-apricot gene in DrosophilaT-cell receptor sequences that elicit strong down-regulation of premature termination codon-bearing transcripts.Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.Identification of two novel mutations in non-Jewish factor XI deficiency.Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiencyNonsense-mediated decay in genetic disease: friend or foe?UV signature mutations.Heat shock affects 5' splice site selection, cleavage and ligation of CAD pre-mRNA in hamster cells, but not its packaging in InRNP particles.A splice mutation and mRNA decay of EXT2 provoke hereditary multiple exostoses.Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosisIdentification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.Molecular basis of a null mutation in soybean lipoxygenase 2: substitution of glutamine for an iron-ligand histidineModification of the apolipoprotein B gene in HepG2 cells by gene targeting.The murine mutation jaundiced is caused by replacement of an arginine with a stop codon in the mRNA encoding the ninth repeat of beta-spectrin.
P2860
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P2860
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
description
1988 nî lūn-bûn
@nan
1988 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1988 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1988年の論文
@ja
1988年論文
@yue
1988年論文
@zh-hant
1988年論文
@zh-hk
1988年論文
@zh-mo
1988年論文
@zh-tw
1988年论文
@wuu
name
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@ast
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@en
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@nl
type
label
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@ast
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@en
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@nl
prefLabel
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@ast
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@en
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@nl
P2860
P356
P1476
Nonsense mutations in the human beta-globin gene affect mRNA metabolism.
@en
P2093
Baserga SJ
Benz EJ Jr
P2860
P304
P356
10.1073/PNAS.85.7.2056
P407
P577
1988-04-01T00:00:00Z