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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Nature Publishing Group UK
2020
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| Materias: | |
| 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 |