mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
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An unappreciated role for RNA surveillanceMaternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant alleleExpression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutationNovel metabolism of several beta zero-thalassemic beta-globin mRNAs in the erythroid tissues of transgenic mice.Beta -Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon.New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo.The thalassemias: molecular mechanisms of human genetic disease.Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate.Genetic variation in rates of antipyrine metabolite formation: a study in uninduced twinsHemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX.Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.Nonsense-mediated RNA decay--a switch and dial for regulating gene expressionBeta-thalassemia resulting from a single nucleotide substitution in an acceptor splice siteDetermination of mRNA fate by different RNA polymerase II promoters.Site-selected insertion of the transposon Tc1 into a Caenorhabditis elegans myosin light chain gene.Translation to near the distal end of the penultimate exon is required for normal levels of spliced triosephosphate isomerase mRNA.Regulation of asparagine synthetase gene expression by amino acid starvationPremature translation termination mediates triosephosphate isomerase mRNA degradation.X rays induce interallelic homologous recombination at the human thymidine kinase gene.Relatively stable population of c-myc RNA that lacks long poly(A).Nonsense codons in human beta-globin mRNA result in the production of mRNA degradation products.Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sitesEvolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.Molecular basis of beta-thalassemia in the population of Tunisia.Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.Intercistronic as well as terminal sequences are required for efficient amplification of brome mosaic virus RNA3.Thalassemic hemoglobinopathies.Subcellular localization of RNAs in transfected cells: role of sequences at the 5' terminus.Adhn4 of Drosophila melanogaster is a nonsense mutation.A beta zero-thalassemic beta-globin RNA that is labile in bone marrow cells is relatively stable in HeLa cells.Human gene mutations affecting RNA processing and translation.The Arabidopsis NMD Factor UPF3 Is Feedback-Regulated at Multiple Levels and Plays a Role in Plant Response to Salt Stress.Low-density lipoprotein receptor gene mutation analysis and structure-function correlation in an Omani arab family with familial hypercholesterolemia.The beta- and delta-thalassemia repository.Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations.A frameshift mutation prevents Kunitz trypsin inhibitor mRNA accumulation in soybean embryos.Interaction between Hb E and Hb Yala (HBB:c.129delT); a novel frameshift beta globin gene mutation, resulting in Hemoglobin E/β0 thalassemia.
P2860
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P2860
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
description
1982 nî lūn-bûn
@nan
1982年の論文
@ja
1982年論文
@yue
1982年論文
@zh-hant
1982年論文
@zh-hk
1982年論文
@zh-mo
1982年論文
@zh-tw
1982年论文
@wuu
1982年论文
@zh
1982年论文
@zh-cn
name
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
@en
type
label
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
@en
prefLabel
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
@en
P2093
P2860
P356
P1476
mRNA-deficient beta o-thalassemia results from a single nucleotide deletion.
@en
P2093
A J Kinniburgh
E Rachmilewitz
L E Maquat
P2860
P304
P356
10.1093/NAR/10.18.5421
P577
1982-09-01T00:00:00Z