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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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| 出版年: | J Neuropathol Exp Neurol |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2017
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| 主題: | |
| オンライン･アクセス: | 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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