Carregant...
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...
Guardat en:
| Publicat a: | BMC Vet Res |
|---|---|
| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6307278/ https://ncbi.nlm.nih.gov/pubmed/30591066 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12917-018-1728-1 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|