Gne deletion in adult mice can cause thrombocytopenia, anemia, myopathy, bleeding, and death
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The GNE gene encodes the UDP-GlcNAc-2-epimerase/ManNAc kinase, a bifunctional enzyme required for the synthesis of sialic acid. The mouse Gne gene is essential for embryonic development, but humans with recessive partial loss of function GNE mutations can deve... ...
