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Friedreich Ataxia: Neuropathology Revised

Friedreich ataxia is an autosomal recessive disorder that affects children and young adults. The mutation consists of a homozygous guanine-adenine-adenine trinucleotide repeat expansion that causes deficiency of frataxin, a small nuclear genome–encoded mitochondrial protein. Low frataxin levels lead...

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Bibliografische gegevens
Hoofdauteurs: Koeppen, Arnulf H., Mazurkiewicz, Joseph E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2013
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3817014/
https://ncbi.nlm.nih.gov/pubmed/23334592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31827e5762
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