doi: 10.1126/science.154.3752.1024.
Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue
- PMID:5919752
- DOI: 10.1126/science.154.3752.1024
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Hemoglobin Freiburg: abnormal hemoglobin due to deletion of a single amino acid residue
R T Jones et al. Science..
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Abstract
Structural characterization of a new variant of human hemoglobin (adult), designated hemoglobin Freiburg, indicates the deletion of the valyl residue No. 23 from an otherwise normal beta-chain. The formula may be written (alpha2)beta(2)(23val-0). The abnormal hemoglobin is present with hemoglobin A in the proposita and in two of her three living children, but is not detectable in her parents. We postulate that this variant represents a triplet base deletion which most likely resulted from an unequal crossing-over between two normal betachain loci during meiosis in one of the parents of the proposita.
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