Homozygous beta zero-39 mutation with thalassemia intermedia in northern Sardinia: clinical, hematological and molecular analysis.

No abstract is available for this paper.

• Publication year

  1988

• Venue

  Hemoglobin

• Publication date

  Unknown publication date

• Fields of study

  Medicine

• Identifiers
  PMID 2905346
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population.

  1987cited by this paper
• Polymorphism of foetal haemoglobin in the Sardinian beta +-thalassaemia.

  1986cited by this paper
• DNA polymorphisms in North Sardinian newborns and their linkage with abnormal gamma globin gene arrangements and with beta (0) -thalassemia.

  1986cited by this paper
• The level of Hb F-Sardinia (alpha 2A gamma 2(75)Ile----Thr) in the fetal hemoglobin of Sardinian beta-thalassemic homozygotes determined by isoelectric focusing.

  1986cited by this paper
• The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

  1986cited by this paper
• Reversed-phase high-performance liquid chromatography of human haemoglobin chains.

  1985cited by this paper
• Genetic and molecular analysis of mild forms of homozygous beta-thalassemia.

  1985cited by this paper
• The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

  1984cited by this paper
• beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.

  1984cited by this paper
• Base substitution at position -88 in a beta-thalassemic globin gene. Further evidence for the role of distal promoter element ACACCC.

  1984cited by this paper
• Linkage between fetal A gamma globin chain polymorphism and DNA polymorphism of the human beta gene cluster in beta thalassaemia.

  1984cited by this paper
• Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA.

  1983cited by this paper
• ATA box transcription mutation in beta-thalassemia.

  1983cited by this paper
• Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia.

  1983cited by this paper
• beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene.

  1983cited by this paper
• Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster.

  1982cited by this paper
• Alpha-thalassemia in two Mediterranean populations.

  1982cited by this paper
• The interaction of α thalassaemia with heterozygous β thalassaemia

  1982cited by this paper
• Beta-Thalassaemia types in southern Sardinia.

  1981cited by this paper
• beta zero thalassemia in Sardinia is caused by a nonsense mutation.

  1981cited by this paper
• Hematological and biosynthetic features of beta 0-thalassemia with an associated alpha-thalassemia heterozygosity in Sardinia.

  1981cited by this paper
• Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.

  1980cited by this paper
• Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia).

  1979cited by this paper
• A new Hb variant: Hb F Sardinia gamma75(E19) isoleucine leads to threonine found in a family with Hb G Philadelphia, beta-chain deficiency and a Lepore-like haemoglobin indistinguishable from Hb A2.

  1975cited by this paper
• Microchromatography of hemoglobins. II. A simplified procedure for the determination of hemoglobin A2.

  1975cited by this paper
• Isolation of high-molecular-weight DNA from mammalian cells.

  1973cited by this paper
• Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok).

  1966cited by this paper

• Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia

  2024cites this paper
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  2015cites this paper
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  2005cites this paper
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  2005cites this paper
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  2000cites this paper
• A significant beta-thalassemia heterogeneity in the United Arab Emirates.

  1997cites this paper
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  1995cites this paper
• A 12-year preventive program for beta-thalassemia in Northern Sardinia.

  1994cites this paper
• Mild Hb Constant Spring-Hb H disease with beta zero-thalassemia trait.

  1992cites this paper
• Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.

  1992cites this paper
• Hemoglobinopathies in Sardinia.

  1992cites this paper
• Retrospective clinical remarks in thalassemia intermedia.

  1990cites this paper
• High-performance liquid chromatography of globin chains in the identification of human globin gene abnormalities.

  1990cites this paper
• Alpha thalassemia.

  1989cites this paper