Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, Frans P.M. Cremers, Susanne Kohl, Bernd Wissinger, Ditta Zobor
This study analyzes genetic mutations in 27 German LCA patients, identifying 93% pathogenic variants using MIP-based sequencing and highlighting the importance of genetic testing in IRD diagnosis.
PLoS ONE · Dec 21, 2018Peer-reviewedGenetics