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Literature DB >> 1246358

Presence of gene for beta globin in homozygous beta0 thalassaemia.

P Tolstoshev, J Mitchell, G Lanyon, R Williamson, S Ottolenghi, P Comi, B Giglioni, G Masera, B Modell, D J Weatherall, J B Clegg.

Abstract

In one southern Italian and one Pakistani patient with homozygous beta0 thalassaemia in which no detectable beta-globin synthesis occurs and no beta-globin messenger RNA is found, the gene for beta globin has been shown to be present using complementary DNA. This demonstrates that for these patients the imbalance in chain synthesis is not attributable to a gene deletion.

Entities: Gene Species

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Year: 1976 PMID： 1246358 DOI： 10.1038/259095a0

Source DB: PubMed Journal: Nature ISSN： 0028-0836 Impact factor: 49.962

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Cited

14 in total

1. The structure of the human beta-globin gene in beta-thalassaemia.

Authors: R A Flavell; R Bernards; J M Kooter; E de Boer; P F Little; G Annison; R Williamson
Journal: Nucleic Acids Res Date: 1979-06-25 Impact factor: 16.971

2. Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

Authors: F Ramirez; J G Mears; U Nudel; A Bank; L Luzzatto; G DiPrisco; R D'Avino; G Pepe; L Camardella; R Gambino; R Cimino; N Quattrin
Journal: J Clin Invest Date: 1979-04 Impact factor: 14.808

3. Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.

Authors: J G Adams; L A Boxer; R L Baehner; B G Forget; G A Tsistrakis; M H Steinberg
Journal: J Clin Invest Date: 1979-05 Impact factor: 14.808

Presence of gene for beta globin in homozygous beta0 thalassaemia.

1. The structure of the human beta-globin gene in beta-thalassaemia.

2. Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore.

3. Hemoglobin Indianapolis (beta 112[G14] arginine). An unstable beta-chain variant producing the phenotype of severe beta-thalassemia.

4. beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0].

Review 5. The thalassemias: molecular mechanisms of human genetic disease.

6. Organization of the chorion genes of Bombyx mori, a multigene family. I. Evidence for linkage to chromosome 2.

7. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia.

Review 8. The molecular basis of disorders of human hemoglobin synthesis.

9. Heterogeneity in beta 0 thalassemia from Algeria: genetic, clinical and molecular studies.

10. beta 0 thalassemia, a nonsense mutation in man.