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pro vyhledávání: '"Alena I Moskvina"'
Autor:
Andrea Ballabio, Aleksey Shatunov, Lena E Nikolaeva, Elena Pavlova, J. Paul Luzio, Alena I Moskvina, Timothy M. Cox, Lena Wartosch, Karen Tylee, Nicholas A. Bright, Heather J. Church
Publikováno v:
Human Molecular Genetics
A rare lysosomal disease resembling a mucopolysaccharidosis with unusual systemic features, including renal disease and platelet dysfunction, caused by the defect in a conserved region of the VPS33A gene on human chromosome 12q24.31, occurs in Yakuts
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620448156d5a241dbc23d38f5fbfc851
http://europepmc.org/articles/PMC6644154
http://europepmc.org/articles/PMC6644154
