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pro vyhledávání: '"D. M. Maas"'
Autor:
R. M. J. Thewissen, M. A. Post, D. M. Maas, R. Veizaj, I. Wagenaar, M. Alsady, J. Kools, K. Bouman, H. Zweers, P. G. Meregalli, A. J. van derKooi, P. A. vanDoorn, J. T. Groothuis, D. J. Lefeber, N. C. Voermans
Publikováno v:
JIMD Reports, Vol 65, Iss 3, Pp 171-181 (2024)
Abstract Three forms of muscular dystrophy‐dystroglycanopathies are linked to the ribitol pathway. These include mutations in the isoprenoid synthase domain‐containing protein (ISPD), fukutin‐related protein (FKRP), and fukutin (FKTN) genes. Th
Externí odkaz:
https://doaj.org/article/1815c6e982004a889620da37199c4367