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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5441426/
https://ncbi.nlm.nih.gov/pubmed/28546998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.285
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