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...

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Detalles Bibliográficos
Autores principales: Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
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

Internet

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

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