Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes.

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). A feline MPS VI model used to demonstrate efficacy of enzyme replacement therapy is due to the homozygous presence of an L476P mutation in 4-sulfatase. An additiona...

Full description

Saved in:
Bibliographic Details
Main Authors: Crawley, A C, Yogalingam, G, Muller, V J, Hopwood, J J
Format: Artigo
Language:Inglês
Published: 1998
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC508546/
https://ncbi.nlm.nih.gov/pubmed/9421472
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items