A novel mutation on the transferrin gene abolishes one N-glycosylation site and alters the pattern of transferrin isoforms, mimicking that observed after excessive alcohol consumption.
Författare
Summary, in English
In the process of obtaining a driver's license, a healthy 28year old man presented increased levels of disialo-transferrin (TF) (approx. 20%, ref. value<2) by HPLC analysis of TF isoforms (%CDT), while other markers of excessive alcohol consumption (PEth, MCV and γ-GT) were in the normal range. The objective of this study was to determine the cause of the increased %CDT levels.
Publiceringsår
2016
Språk
Engelska
Sidor
511-513
Publikation/Tidskrift/Serie
Clinical Biochemistry
Volym
49
Issue
6
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Elsevier
Ämne
- Cell and Molecular Biology
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 1873-2933