beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects. - Wikidata - awgldk - TriplyDB

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

http://www.wikidata.org/entity/Q36259510

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Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients Prenatal diagnosis of the common haemoglobin disorders.The spectrum of beta thalassaemia mutations in the UAE national population High frequency of beta thalassaemia in a small island population in Melanesia.Prenatal diagnosis of beta thalassaemia by oligonucleotide analysis in Mediterranean populations Beta thalassaemia mutations in Turkish Cypriots.Enhancement of β-Globin Gene Expression in Thalassemic IVS2-654 Induced Pluripotent Stem Cell-Derived Erythroid Cells by Modified U7 snRNA.Genetic modifying factors in beta-thalassemia.The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro.Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.The molecular basis of β-thalassemia.Sensitivity of splice sites to antisense oligonucleotides in vivo.Alpha 1-antitrypsin deficiency caused by the alpha 1-antitrypsin Nullmattawa gene. An insertion mutation rendering the alpha 1-antitrypsin gene incapable of producing alpha 1-antitrypsin Molecular basis for congenital deficiency of alpha 2-plasmin inhibitor. A frameshift mutation leading to elongation of the deduced amino acid sequence.Beta-thalassemia mutations in Indonesia and their linkage to beta haplotypes.Distribution of beta-thalassemia mutations in south China and their association with haplotypes.Both TALENs and CRISPR/Cas9 directly target the HBB IVS2-654 (C > T) mutation in β-thalassemia-derived iPSCs Identification and characterization by antisense oligonucleotides of exon and intron sequences required for splicing Repair of thalassemic human beta-globin mRNA in mammalian cells by antisense oligonucleotides Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice.Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.β-globin gene cluster haplotypes in ethnic minority populations of southwest China.Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Deep intronic mutations and human disease.Temperature-dependent splicing of beta-globin pre-mRNA.Antisense oligonucleotides with different backbones. Modification of splicing pathways and efficacy of uptake.Sequence polymorphisms of potential functional relevance in the beta-globin gene locus.Mutation Spectrum of β-Thalassemia and Other Hemoglobinopathies in Chittagong, Southeast Bangladesh.Thalassemia Phenotypes and Genotypes in Taiwan: A Retrospective Study Based on Thalassemia Screening of Young Men for Military Conscription.Disorders of haemoglobin in China.Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.Allan Award Lecture: on jumping fields and "jumping genes".Molecular characterization of beta-globin gene mutations in patients with beta-thalassaemia intermedia in south China.Characterization of beta-thalassemia mutations among the Japanese.The different types of alpha-thalassemia: practical and genetic aspects.

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beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.

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Proceedings of the National Academy of Sciences of the United States of America

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Antonarakis SE

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Li A

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P2860

DNA sequencing with chain-terminating inhibitors

beta 0 thalassemia, a nonsense mutation in man

Hemoglobin E in Europeans: further evidence for multiple origins of the beta E-globin gene

Sequencing end-labeled DNA with base-specific chemical cleavages

Etiology of growth hormone deficiency in little, Ames, and Snell dwarf mice

The thalassemias: molecular mechanisms of human genetic disease.

Direct detection of the common Mediterranean beta-thalassemia gene with synthetic DNA probes. An alternative approach for prenatal diagnosis.

A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia.

ATA box transcription mutation in beta-thalassemia

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

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2821-2825

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