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Literature DB >> 6407302

The thalassemias: molecular mechanisms of human genetic disease.

R A Spritz, B G Forget.

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 1983 PMID： 6407302 PMCID： PMC1685658

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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249 in total

1. Haemoglobin Tak: a variant with additional residues at the end of the beta-chains.

Authors: G Flatz; J L Kinderlerer; J V Kilmartin; H Lehmann
Journal: Lancet Date: 1971-04-10 Impact factor: 79.321

2. Haemoglobin-H disease due to a unique haemoglobin variant with an elongated alpha-chain.

Authors: P F Milner; J B Clegg; D J Weatherall
Journal: Lancet Date: 1971-04-10 Impact factor: 79.321

3. Synthesis of haemoglobin Lepore.

Authors: J M White; A Lang; P A Lorkin; H Lehmann; J Reeve
Journal: Nat New Biol Date: 1972-02-16

4. The synthesis of human haemoglobin A 2 during erythroid maturation.

Authors: A V Roberts; D J Weatherall; J B Clegg
Journal: Biochem Biophys Res Commun Date: 1972-04-14 Impact factor: 3.575

5. A new thalassemic syndrome: homozygous hemoglobin S disease delta thalassemia.

Authors: R B Thompson; B Hewett; E Ard; J Odom; W N Bell
Journal: Acta Haematol Date: 1966 Impact factor: 2.195

6. A Ghanaian adult, homozygous for hereditary persistence of foetal haemoglobin and heterozygous for elliptocytosis.

Authors: B Ringelhann; F I Konotey-Ahulu; H Lehmann; P A Lorkin
Journal: Acta Haematol Date: 1970 Impact factor: 2.195

7. Haemoglobin Constant Spring--a chain termination mutant?

Authors: J B Clegg; D J Weatherall; P F Milner
Journal: Nature Date: 1971-12-10 Impact factor: 49.962

8. Interaction between genes for delta thalassemia and hereditary persistence of foetal hemoglobin.

Authors: R B Thompson; R Warrington; J Odom; W N Bell
Journal: Acta Genet Stat Med Date: 1965

9. Interaction between beta and delta thalassemia and hemoglobin D.

Authors: R B Thompson; J Odom; E Ard; W N Bell
Journal: Acta Genet Stat Med Date: 1966

10. Hemoglobin E: distribution and population dynamics.

Authors: G Flatz
Journal: Humangenetik Date: 1967

16 in total

1. The human salivary protein complex (SPC): a large block of related genes.

Authors: P A Goodman; P L Yu; E A Azen; R C Karn
Journal: Am J Hum Genet Date: 1985-07 Impact factor: 11.025

2. A list of cloned human DNA sequences.

Authors: J Schmidtke; D N Cooper
Journal: Hum Genet Date: 1983 Impact factor: 4.132

3. The organization of the beta-globin gene of the bivalve mollusc Anadara trapezia and its evolutionary relationship to other invertebrate and vertebrate globin genes.

Authors: N T Nassif; W K Glenn; A G Mackinlay
Journal: J Mol Evol Date: 1994-07 Impact factor: 2.395

7. Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.

Authors: I Satokata; K Tanaka; Y Okada
Journal: Hum Genet Date: 1992-03 Impact factor: 4.132

8. Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

Authors: H W Mohrenweiser
Journal: Hum Genet Date: 1987-11 Impact factor: 4.132

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

Authors: T C Cheng; S H Orkin; S E Antonarakis; M J Potter; J P Sexton; A F Markham; P J Giardina; A Li; H H Kazazian
Journal: Proc Natl Acad Sci U S A Date: 1984-05 Impact factor: 11.205

10. Characterization of normal and mutant adenosine deaminase messenger RNAs by translation and hybridization to a cDNA probe.

Authors: G S Adrian; D A Wiginton; J J Hutton
Journal: Hum Genet Date: 1984 Impact factor: 4.132