A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

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 un...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
SMALL ANIMAL
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7517864/
https://www.ncbi.nlm.nih.gov/pubmed/32785987
http://dx.doi.org/10.1111/jvim.15868

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