Targeted next-generation sequencing extends the mutational spectrums for OPA1 mutations in Chinese families with optic atrophy.

Conclusions: In conclusion, our study expands the mutational spectrum for the OPA1 gene and implies targeted NGS as an effective approach for the genetic diagnosis of OA, which might help to improve the clinical diagnosis for patients with OA. PMID: 32025183 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/32025183?dopt=Abstract

Source: Molecular Vision - February 8, 2020 Category: Molecular Biology Tags: Mol Vis Source Type: research