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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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2017
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Original Articles
Online Zugang: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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