Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia

In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one allele, and a deletion, point mutation, or insertion in the other. In 2 cases of compound heterozygous...

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Bibliografiske detaljer
Udgivet i:J Neuropathol Exp Neurol
Main Authors: Becker, Alyssa B., Qian, Jiang, Gelman, Benjamin B., Yang, Michele, Bauer, Peter, Koeppen, Arnulf H.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2017
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5901083/
https://ncbi.nlm.nih.gov/pubmed/28789479
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlx047
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