1971
DOI: 10.1172/jci106651
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An Unusual Hemoglobin Anomaly and Its Relation to α-Thalassemia and Hemoglobin-H Disease

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Cited by 16 publications
(4 citation statements)
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“…While this sequence work was in progress, Efremov et (1971) reported some preliminary sequence studies on an a-chain variant which was obviously the same as Hb CS. They sequenced two peptides, one of which had an identical sequence to Y, and the other of 8 residues which had an identical sequence to that proposed here for the first eight residues of Wl or the complete sequence of peptide Z.…”
Section: (A) the Structure Of The Elongated Variantsmentioning
confidence: 99%
“…While this sequence work was in progress, Efremov et (1971) reported some preliminary sequence studies on an a-chain variant which was obviously the same as Hb CS. They sequenced two peptides, one of which had an identical sequence to Y, and the other of 8 residues which had an identical sequence to that proposed here for the first eight residues of Wl or the complete sequence of peptide Z.…”
Section: (A) the Structure Of The Elongated Variantsmentioning
confidence: 99%
“…The extra glutamyl residue in the inserted segment Glu-Phe-Thr is responsible for the observed electrophoretic and chromatographic properties. Although chains elongated at the carboxyl terminus have been described (14)(15)(16)(17), Hb-Grady is the first example of elongation by insertion of residues somewhere between the termini. Seven variants are known in which one to five residues are deleted (18)(19)(20)(21)(22)(23).…”
Section: Discussionmentioning
confidence: 99%
“…The most clinically significant Stop . Gln), caused by an antitermination mutation at the a2 stop codon Efremov et al 1971;Milner et al 1971;Clegg and Weatherall 1974). This elongates the protein by 31 amino acids, generating an unstable protein that is relatively underrepresented in hemolysates, but can be detected by physical methods (see sections on Basic Principles, Laboratory Testing for Hb Variants, and Physical methods of Hb separation).…”
Section: Globin Chain Elongation Mutantsmentioning
confidence: 99%