TY  - GEN
AU  - Park,Julien H
AU  - Zühlsdorf,Andrea
AU  - Wada,Yoshinao
AU  - Roll,Claudia
AU  - Rust,Stephan
AU  - Du Chesne,Ingrid
AU  - Grüneberg,Marianne
AU  - Reunert,Janine
AU  - Marquardt,Thorsten
TI  - The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation
SN  - 1873-3492
PY  - 2015///0827
KW  - Artifacts
KW  - Blood Chemical Analysis
KW  - methods
KW  - Chromatography, High Pressure Liquid
KW  - Congenital Disorders of Glycosylation
KW  - blood
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Immunoprecipitation
KW  - Isoelectric Focusing
KW  - Male
KW  - Mutation
KW  - Reproducibility of Results
KW  - Transferrin
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.cca.2014.05.011
ER  -