Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
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A 5' splice-region G----C mutation in exon 1 of the human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemiaThe two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro.Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.The molecular basis of β-thalassemia.Genetic variation in rates of antipyrine metabolite formation: a study in uninduced twinsATA box transcription mutation in beta-thalassemiaBeta-thalassemia resulting from a single nucleotide substitution in an acceptor splice sitebeta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects.Virus deletion mutants that affect a 3' splice site in the E3 transcription unit of adenovirus 2Erythroleukemia (K562) cells contain a functional beta-globin geneStable transfer and expression of exogenous human globin genes in human erythroleukemia (K562) cells.Alternative splicing: role of pseudoexons in human disease and potential therapeutic strategies.Deep intronic mutations and human disease.Subcellular localization of RNAs in transfected cells: role of sequences at the 5' terminus.Novel deletion mutants that enhance a distant upstream 5' splice in the E3 transcription unit of adenovirus 2.DNA sequences regulating human beta globin gene expression.Role of intron-contained sequences in formation of moloney murine leukemia virus env mRNA.Synthetic donor and acceptor splice sites function in an RNA polymerase B (II) transcription unit.Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.The beta- and delta-thalassemia repository.First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family.IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.Abnormal globin gene structure and expression in beta-thalassemia.Splicing and Disease
P2860
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P2860
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on March 1983
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@en
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@nl
type
label
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@en
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@nl
prefLabel
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@en
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@nl
P2093
P2860
P356
P1476
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation.
@en
P2093
P2860
P304
P356
10.1073/PNAS.80.5.1184
P407
P577
1983-03-01T00:00:00Z