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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Detalles Bibliográficos
Autores principales: Armao, Diane, Bouldin, Thomas W., Bailey, Rachel M., Hooper, Jody E., Bharucha, Diana X., Gray, Steven J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6359799/
https://www.ncbi.nlm.nih.gov/pubmed/30709364
http://dx.doi.org/10.1186/s13023-018-0957-5

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