The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Park, Julien H

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