Whole-transcriptome sequencing in blood provides a...

Human Mutation 2017 / 03

Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Consortium, CareRare Canada, Bennett, Steffany
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Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23211
Date:
March, 2017
File:
PDF, 712 KB
english, 2017
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