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pro vyhledávání: '"Klara Weinert"'
Autor:
Vanessa Hagenhaus, Jacob L. Gorenflos López, Rebecca Rosenstengel, Carolin Neu, Christian P. R. Hackenberger, Arif Celik, Klara Weinert, Mai-Binh Nguyen, Kaya Bork, Rüdiger Horstkorte, Astrid Gesper
Publikováno v:
Biomolecules, Vol 13, Iss 3, p 422 (2023)
Mutations in the gene coding for the bi-functional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the key enzyme of the sialic acid biosynthesis, are responsible for autosomal-recessive GNE myopathy (GNEM). GNEM is an adult-ons
Externí odkaz:
https://doaj.org/article/702e7a0e6dba49f4aba8f031da5c0173
