Title : Genetics of GNE myopathy in the non-Jewish Persian population.

Pub. Date : 2016 Feb

PMID : 25966635






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 It is caused by variants in the GNE gene that encodes a key bifunctional enzyme in the sialic acid biosynthetic pathway. N-Acetylneuraminic Acid glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase Homo sapiens