Giant axonal neuropathy alters the structure of keratin intermediate filaments in human hair

Giant axonal neuropathy (GAN) follows an autosomal recessive genetic inheritance and impedes the peripheral and central nervous system due to axonal swellings that are packed with neurofilaments. The patients display a number of phenotypes, including hypotonia, muscle weakness, decreased reflexes, a...

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Detalhes bibliográficos
Publicado no:J R Soc Interface
Main Authors: Soomro, Asfia, Alsop, Richard J., Negishi, Atsuko, Kreplak, Laurent, Fudge, Douglas, Kuczmarski, Edward R., Goldman, Robert D., Rheinstädter, Maikel C.
Formato: Artigo
Idioma:Inglês
Publicado em: The Royal Society 2017
Assuntos:
Life Sciences–Physics interface
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5414914/
https://ncbi.nlm.nih.gov/pubmed/28424304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1098/rsif.2017.0123
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