The lysosomal disease caused by mutant VPS33A

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—a nomadic Turkic ethnic group of Southern Siberia...

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Detalles Bibliográficos
Autores principales: Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6644154/
https://www.ncbi.nlm.nih.gov/pubmed/31070736
http://dx.doi.org/10.1093/hmg/ddz077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6644154/
https://www.ncbi.nlm.nih.gov/pubmed/31070736
http://dx.doi.org/10.1093/hmg/ddz077

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