Publications:

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients.

Journal Of Neuropathology And Experimental Neurology

Torelli, Silvia S; Scaglioni, Domenic D; Sardone, Valentina V; Ellis, Matthew J MJ; Domingos, Joana J; Jones, Adam A; Feng, Lucy L; Chambers, Darren D; Eastwood, Deborah M DM; Leturcq, France F; Yaou, Rabah Ben RB; Urtizberea, Andoni A; Sabouraud, Pascal P; Barnerias, Christine C; Stojkovic, Tanya T; Ricci, Enzo E; Beuvin, Maud M; Bonne, Gisele G; Sewry, Caroline A CA; Willis, Tracey T; Kulshrestha, Richa R; Tasca, Giorgio G; Phadke, Rahul R; Morgan, Jennifer E JE; Muntoni, Francesco F

Publication Date: 2021-10-26

Variant appearance in text: DMD: 9748G>T; Glu3250*

PubMed Link: 34498054

Variant Present in the following documents:

• Main text
• nlab088.pdf

View BVdb publication page