Additional file 3 of Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

Peluso, Francesca; Palazzo, Viviana; Indolfi, Giuseppe; Mari, Francesco; Pasqualetti, Roberta; Procopio, Elena; Nesti, Claudia; Guerrini, Renzo; Santorelli, Filippo; Giglio, Sabrina

doi:10.6084/m9.figshare.13627327.v1

12920_2020_863_MOESM3_ESM.ppt (621 kB)

Additional file 3 of Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report

presentation

posted on 2021-01-23, 00:48 authored by Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Giglio

Additional file 3. Sequencing of the region flanking the mutations using muscle cDNA analysis served to assess “semiquantitatively” the presence and the abundance of the wild-type and mutant transcripts.