Title : Tissue-specific isoform expression of GNE gene in human tissues.

Pub. Date : 2022 May 7

PMID : 35524895






1 Functional Relationships(s)
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1 Mutations in the sialic acid biosynthesis enzyme GNE lead to a late-onset, debilitating neuromuscular disorder, GNE myopathy, characterized by progressive skeletal muscle weakness. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Homo sapiens