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November 1, 1987Journal of Clinical InvestigationOpen Access

An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

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Authors

PMPaolo MoiInstitute of Genetic and Biomedical ResearchFCFE CashSLSA LiebhaberHoward Hughes Medical Institute

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Moi et al. (1987) studied this question.

synapsesocial.com/papers/6a7cc58bf40403d04c3f7554https://doi.org/10.1172/jci113220
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Molecular pathology of haemoglobin H disease in Sardinians1986 · 36 citations
  2. 2DNA sequencing with chain-terminating inhibitors1977 · 69,512 citations
  3. 3Initiation codon mutation as a cause of alpha thalassemia.1984 · 129 citations
  4. 4Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics.1981 · 145 citations
  5. 5Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion.1985 · 64 citations