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Identification of a novel missense mutation in Friedreich's ataxia –FXN(W) (168R)
Friedreich's ataxia, characterized by decreased expression of frataxin protein, is caused by GAA trinucleotide repeats within intron 1 in 98% of patients. Two percent of patients carry GAA repeats in conjunction with a point mutation. In this work, we find that frataxin(W168R), a novel disease‐...
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| Publicat a: | Ann Clin Transl Neurol |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6469249/ https://ncbi.nlm.nih.gov/pubmed/31020006 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.728 |
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