Article
A mutation map for human glycoside hydrolase genes.
Glycobiology - 16 Jul 2020
Hansen Lars, Husein Diab M, Gericke Birthe, Hansen Torben, Pedersen Oluf, Tambe Mitali A, Freeze Hudson H, Naim Hassan Y, Henrissat Bernard, Wandall Hans H, Clausen Henrik, Bennett Eric P
Abstract excerpt
Glycoside hydrolases (GHs) are found in all domains of life, and at least 87 distinct genes encoding proteins related to GHs are found in the human genome. GHs serve diverse functions from digestion of dietary polysaccharides to breakdown of intracellular oligosaccharides, glycoproteins, proteoglycans and glycolipids. Congenital disorders of GHs (CDGHs) represent more than 30 rare diseases caused by mutations in...
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