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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‐...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6469249/ https://www.ncbi.nlm.nih.gov/pubmed/31020006 http://dx.doi.org/10.1002/acn3.728 |