Dominant beta thalassaemia: molecular basis and pathophysiology.
about
Beta-thalassemiaCloning and characterization of HUPF1, a human homolog of the Saccharomyces cerevisiae nonsense mRNA-reducing UPF1 proteinEvidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cellsWhen cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG)A novel intrachromosomal rearrangement in the beta-globin gene found in an African-American family.Dominantly Inherited beta-Thalassemia.Beta-thalassemia.Preconception carrier screening and prenatal diagnosis in thalassemia and hemoglobinopathies: challenges and future perspectives.First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.Hemoglobinopathies in Southeast Asia: molecular biology and clinical medicine.De novo mutation of the beta-globin gene initiation codon (ATG-->AAG) in a Northern European boy.Defects in RNA splicing and the consequence of shortened translational reading frames.Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.Dominant beta-thalassemia due to a newly identified frameshift mutation in exon 3 (codon 113, GTG-->Tg).Three new beta-thalassemia mutations with varying degrees of severity.Hb Stara Zagora: a new hyper-unstable hemoglobin causing severe hemolytic anemia.Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].Dominant beta-thalassaemia: a highly unstable haemoglobin is caused by a novel 6 bp deletion of the beta-globin gene.
P2860
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P2860
Dominant beta thalassaemia: molecular basis and pathophysiology.
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
Dominant beta thalassaemia: molecular basis and pathophysiology.
@ast
Dominant beta thalassaemia: molecular basis and pathophysiology.
@en
type
label
Dominant beta thalassaemia: molecular basis and pathophysiology.
@ast
Dominant beta thalassaemia: molecular basis and pathophysiology.
@en
prefLabel
Dominant beta thalassaemia: molecular basis and pathophysiology.
@ast
Dominant beta thalassaemia: molecular basis and pathophysiology.
@en
P1476
Dominant beta thalassaemia: molecular basis and pathophysiology.
@en
P2093
P304
P356
10.1111/J.1365-2141.1992.TB08132.X
P407
P577
1992-03-01T00:00:00Z