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Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis
Externí odkaz:
https://doaj.org/article/73a3cdaec61e4bfa8d1cb55a92fa614d