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Autor:
Brittany F. Karas, Kristin R. Terez, Namarata Battula, Brian M. Gural, Kyle P. Flannery, Grace Aboussleman, Numa Mubin, M. Chiara Manzini
Biallelic mutations inProtein O-mannosyltransferase 1(POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. POMT1 is a glycosyltransferase responsible for the attachment of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3013ee6e2cb2aa1b2e94b35ebfb33ff6
https://doi.org/10.1101/2022.10.15.512359
https://doi.org/10.1101/2022.10.15.512359
