LAUSR

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

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0 Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-04-845545

Abstract: TO THE EDITOR: We have identified 9 affected individuals from 3 unrelated families with macrothrombocytopenia and mild to moderate bleeding diathesis inherited due to missense mutations in the glucosamine (UDP- N -acetyl)-2-epimerase/ N -acetylmannosamine kinase… read more here.

Keywords: variants causing; gne variants; autosomal recessive; recessive macrothrombocytopenia ... See more keywords