The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation. [electronic resource]
- Clinica chimica acta; international journal of clinical chemistry Sep 2014
- 135-9 p. digital
Publication Type: Case Reports; Journal Article
1873-3492
10.1016/j.cca.2014.05.011 doi
Artifacts Blood Chemical Analysis--methods Chromatography, High Pressure Liquid Congenital Disorders of Glycosylation--blood DNA Mutational Analysis Female Humans Immunoprecipitation Isoelectric Focusing Male Mutation Reproducibility of Results Transferrin--genetics