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Autor:
D Sean, Froese, Amit, Michaeli, Thomas J, McCorvie, Tobias, Krojer, Meitav, Sasi, Esther, Melaev, Amiram, Goldblum, Maria, Zatsepin, Alexander, Lossos, Rafael, Álvarez, Pablo V, Escribá, Berge A, Minassian, Frank, von Delft, Or, Kakhlon, Wyatt W, Yue
Publikováno v:
Human Molecular Genetics
Glycogen branching enzyme 1 (GBE1) plays an essential role in glycogen biosynthesis by generating α-1,6-glucosidic branches from α-1,4-linked glucose chains, to increase solubility of the glycogen polymer. Mutations in the GBE1 gene lead to the het