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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Detaylı Bibliyografya
Yayımlandı:J R Soc Interface
Asıl Yazarlar: Soomro, Asfia, Alsop, Richard J., Negishi, Atsuko, Kreplak, Laurent, Fudge, Douglas, Kuczmarski, Edward R., Goldman, Robert D., Rheinstädter, Maikel C.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Royal Society 2017
Konular:
Life Sciences–Physics interface
Online Erişim: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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