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Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias
BACKGROUND: The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inh...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5441426/ https://www.ncbi.nlm.nih.gov/pubmed/28546998 http://dx.doi.org/10.1002/mgg3.285 |