Terminology Service for NFDI4Health
Type II transferrin isoform profile
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http://purl.obolibrary.org/obo/HP_0012301
Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. [ http://www.ncbi.nlm.nih.gov/pubmed/15105360 http://www.ncbi.nlm.nih.gov/pubmed/22516080 ]
Term info
Label
Type II transferrin isoform profile
Synonyms
- Abnormal isoelectric focusing of serum transferrin, type II pattern
- Isoelectric focusing of serum transferrin consistent with CDG type II
- Type 2 transferrin isoform profile
comment
There are several methods in use with which this feature can be diagnosed. Using HPLC analysis increased mono- and trisialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the tri-sialo/di-oligosaccharide transferrin ratio is abnormal.
created by
peter
creation date
2013-04-14T08:55:20Z
has obo namespace
human_phenotype
has related synonym
Abnormal isoelectric focusing of serum transferrin, type 2 pattern
id
HP:0012301