Publications:

Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.

International Journal Of Molecular Sciences

Alfen, Franziska F; Putscher, Elena E; Hecker, Michael M; Zettl, Uwe Klaus UK; Hermann, Andreas A; Lukas, Jan J

Publication Date: 2022-12-03

Variant appearance in text: PC: 644A>G

PubMed Link: 36499585

Variant Present in the following documents:

• Main text
• ijms-23-15261.pdf

View BVdb publication page

Optical Coherence Tomography Angiography for the Evaluation of Retinal Vasculature in Fabry Disease: Our Experience and Review of Current Knowledge.

Frontiers In Neurology

Bacherini, Daniela D; Vicini, Giulio G; Nicolosi, Cristina C; Tanini, Ilaria I; Lenzetti, Chiara C; Finocchio, Lucia L; Cirami, Lino Calogero LC; Dervishi, Egrina E; Rizzo, Stanislao S; Virgili, Gianni G; Giansanti, Fabrizio F; Sodi, Andrea A

Publication Date: 2021

Variant appearance in text: PC: 644A>G

PubMed Link: 33767663

Variant Present in the following documents:

• Main text
• fneur-12-640719.pdf

View BVdb publication page