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Quantitative Neuroimaging in Mucolipidosis Type IV
Mucolipidosis type IV (MLIV) is an autosomal recessive disorder resulting from mutations in the MCOLN1 gene. This gene encodes the endosomal/lysosomal transient receptor potential channel protein mucolipin-1 (TRPML1). Affected patients suffer from neurodevelopmental abnormalities and progressive ret...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4097300/ https://ncbi.nlm.nih.gov/pubmed/24332805 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.11.007 |
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