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MIM.266265 11p11.2

Wednesday 28 November 2007

Humans who lack one of the enzymes needed to express the carbohydrate ligands for E-selectin and P-selectin on neutrophils have similar problems, resulting in a syndrome called leukocyte adhesion deficiency type 2 (LAD2).

The disorder (CDG type IIc) (MIM.266265) is caused by mutation in the gene encoding GDP-fucose transporter-1 (FUCT1) (MIM.605881).