Article
Hb-M "Hyde Park": a de novo mutation, identified by mass spectrometry and DNA analysis.
Haematologica - 1 Jan 2000
Rotoli B, Camera A, Fontana R, Frigeri F, Pandolfi G, Vecchione R, Poggi V, Longo G, Carestia C, De Angioletti M
Abstract excerpt
BACKGROUND: Structural hemoglobinopathies usually are inherited as autosomic dominant traits; de novo mutations are uncommon. Analytical and preparative procedures for the characterization of an abnormal hemoglobin are complex and time-consuming. Mass spectrometer analysis allows a rapid identification of the amino acid substitution. METHODS AND RESULTS: A cyanotic 7-year-old girl was found to have 16%...
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