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 identifi...
Topics
- Blotting, Southern
- Child
- Cyanosis
- DNA Mutational Analysis
- Female
- Hemoglobin M
- Hemoglobinopathies
- Humans
- Mass Spectrometry
- Mutation
- Oxyhemoglobins