An exonic insertion in the NAGLU gene causing Mucopolysaccharidosis IIIB in Schipperke dogs

Mucopolysaccharidosis (MPS) IIIB (Sanfilippo syndrome B; OMIM 252920), is a lysosomal storage disease with progressive neurological signs caused by deficient activity of alpha-N-acetylglucosaminidase (NAGLU, EC 3.2.1.50). Herein we report the causative variant in the NAGLU gene in Schipperke dogs an...

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Detalles Bibliográficos
Autores principales: Raj, Karthik, Ellinwood, N. Matthew, Giger, Urs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035321/
https://www.ncbi.nlm.nih.gov/pubmed/32081995
http://dx.doi.org/10.1038/s41598-020-60121-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035321/
https://www.ncbi.nlm.nih.gov/pubmed/32081995
http://dx.doi.org/10.1038/s41598-020-60121-3

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