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Histochemical Localization of Palmitoyl Protein Thioesterase-1 Activity
Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is an invariably fatal neurodegenerative pediatric disorder caused by an inherited mutation in the PPT1 gene. Patients with INCL lack the lysosomal enzyme palmitoyl protein thioesterase-1 (PPT1, EC 3.1.2.22), resulting in intr...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4755911/ https://ncbi.nlm.nih.gov/pubmed/26597320 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2015.11.004 |
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