Article
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.
Journal of veterinary internal medicine - 1 Sept 2020
Faller Kiterie M E, Ridyard Alison E, Gutierrez-Quintana Rodrigo, Rupp Angie, Kun-Rodrigues Celia, Orme Tatiana, Tylee Karen L, Church Heather J, Guerreiro Rita, Bras Jose
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type I (MPS-I) is a lysosomal storage disorder caused by a deficiency of the enzyme α-l-iduronidase, leading to accumulation of undegraded dermatan and heparan sulfates in the cells and secondary multiorgan dysfunction. In humans, depending upon the nature of the underlying mutation(s) in the IDUA gene, the condition presents with a spectrum of clinical severity. OBJECTIVES: To...
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