| hb vila real [beta36(c2)pro-->his] in italy: characterization of the amino acid substitution and the dna mutation. | a rare high oxygen affinity hemoglobin variant was identified in a 22-year-old male patient from napoli (naples, italy) affected by erythrocytosis. a detailed structural characterization of the variant hemoglobin was carried out, both at the protein and dna levels essentially by mass spectrometric procedures and allele-specific amplification techniques. the amino acid substitution was determined by liquid chromatography tandem mass spectrometric analysis of the tryptic digest as beta36(c2)pro--> ... | 2002 | 11939509 |