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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: Bis, Dana M., Schüle, Rebecca, Reichbauer, Jennifer, Synofzik, Matthis, Rattay, Tim W., Soehn, Anne, de Jonghe, Peter, Schöls, Ludger, Züchner, Stephan
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Original Articles
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items