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congenital disorder of glycosylation type 2D

Also see congenital disorder of glycosylation Pathology: - hypoglycosylation of glycoproteins Genetics: - associated with defect in B4GALT1

Related

solute carrier family 35 member C1 (SLC35C1, GDP-fucose transporter 1, FUCT1)

General

congenital disorder of glycosylation

Database Correlations

OMIM 266265

References

UniProt :accession P15291