A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)

BACKGROUND: Mucolipidosis II (ML II; I-cell disease) is caused by a deficiency of N-acetylglucosamine-1-phosphotransferase (GNPTAB; EC 2.7.8.17), which leads to a failure to internalize acid hydrolases into lysosomes for proper catabolism of various substances. This is an autosomal recessive lysosom...

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Detalles Bibliográficos
Autores principales: Wang, Ping, Mazrier, Hamutal, Caverly Rae, Jessica, Raj, Karthik, Giger, Urs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307278/
https://www.ncbi.nlm.nih.gov/pubmed/30591066
http://dx.doi.org/10.1186/s12917-018-1728-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307278/
https://www.ncbi.nlm.nih.gov/pubmed/30591066
http://dx.doi.org/10.1186/s12917-018-1728-1

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