Sign Up to like & get
recommendations!
1
Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12123135
Abstract: Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein…
read more here.
Keywords:
retinal visual;
involvement carriers;
visual pathways;
friedreich ataxia ... See more keywords