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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Dades bibliogràfiques
Publicat a:J R Soc Interface
Autors principals: Soomro, Asfia, Alsop, Richard J., Negishi, Atsuko, Kreplak, Laurent, Fudge, Douglas, Kuczmarski, Edward R., Goldman, Robert D., Rheinstädter, Maikel C.
Format: Artigo
Idioma:Inglês
Publicat: The Royal Society 2017
Matèries:
Life Sciences–Physics interface
Accés en línia: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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