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.

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Abstract

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.

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  • Cell and Molecular Biology
Original languageEnglish
Pages (from-to)511-513
JournalClinical Biochemistry
Volume49
Issue number6
Early online date2015 Dec 4
Publication statusPublished - 2016
Publication categoryResearch
Peer-reviewedYes