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Advancing the pathologic phenotype of giant axonal neuropathy: early involvement of the ocular lens
Giant axonal neuropathy (GAN; ORPHA: 643; OMIM# 256850) is a rare, hereditary, pediatric neurodegenerative disorder associated with intracellular accumulations of intermediate filaments (IFs). GAN knockout (KO) mouse models mirror the IF dysregulation and widespread nervous system pathology seen in...
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| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6359799/ https://ncbi.nlm.nih.gov/pubmed/30709364 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0957-5 |
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