GeneticsNeurology GeneticsPeer-reviewed
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Andrew B. Stergachis, Elizabeth Blue, Madelyn A. Gillentine…·Fuki Marie Hisama
The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.
6 citations