• Publications
  • Influence
Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1.
The X chromosome-linked transcription factor GATA-1 is expressed specifically in erythroid, mast, megakaryocyte, and eosinophil lineages, as well as in hematopoietic progenitors. Prior studiesExpand
  • 755
  • 24
Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location
The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal mapExpand
  • 695
  • 12
Linkage of β-thalassaemia mutations and β-globin gene polymorphisms with DNA polymorphisms in human β-globin gene cluster
Combined analysis of DNA polymorphisms in the human β-globin gene cluster and in cloned β-genes has revealed the association of specific β-thalassaemia mutations and β-gene polymorphisms withExpand
  • 711
  • 6
Purification of the human NF-E2 complex: cDNA cloning of the hematopoietic cell-specific subunit and evidence for an associated partner.
The human globin locus control region-binding protein, NF-E2, was purified by DNA affinity chromatography. Its tissue-specific component, p45 NF-E2, was cloned by use of a low-stringency libraryExpand
  • 172
  • 5
On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.
Seven beta-thalassemia genes were characterized after they were identified as candidates for previously undescribed mutations based upon the close association of DNA polymorphism haplotypes in theExpand
  • 81
  • 4
Evidence for multiple origins of the beta E-globin gene in Southeast Asia.
To investigate whether recurrent mutation has contributed to the high frequency of the beta E-globin gene in Southeast Asia, we used the haplotypes at three polymorphic restriction sites within andExpand
  • 78
  • 3
Globin Chain Electrophoresis: a New Approach to the Determination of the Gγ/Aγ Ratio in Fetal Haemoglobin and to Studies of Globin Synthesis
Summary. Separation of globin chains by electrophoresis provides a simple and rapid method for the determination of the Gγ/Aγ ratio in human fetal haemoglobin, and of biosynthetic rates of the globinExpand
  • 361
  • 2
Molecular characterization of seven beta‐thalassemia mutations in Asian Indians.
To characterize systematically the mutations which produce beta‐thalassemia in Asian Indians, we first determined the DNA polymorphism haplotype in the beta‐globin gene cluster of 44 beta‐thalassemiaExpand
  • 187
  • 2
Abnormal RNA processing due to the exon mutation of beta E-globin gene.
As is typical of all beta-thalassaemias, the erythroid cells of individuals with the variant haemoglobin E (alpha 2 beta 2(26Glu leads to Lys)) exhibit a quantitative deficiency in their content ofExpand
  • 74
  • 2