Loading...

Mucopolysaccharidosis Type VI in a Great Dane Dog Caused by a Nonsense Mutation in the ARSB Gene

Mucopolysaccharidoses (MPS) are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans (GAG). Lysosomal GAG accumulation results in cell and organ dysfunction. This study characterizes the phenotype and genotype of MPS VI in...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Vet Pathol
Main Authors: Wang, P., Margolis, C., Lin, G., Buza, E. L., Quick, S., Raj, K. R., Han, R., Giger, U.
Format: Artigo
Sprog:Inglês
Udgivet: 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7879606/
https://ncbi.nlm.nih.gov/pubmed/29157190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0300985817732115
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!