Researchers have developed a high-throughput assay to validate ECHS1 VUS variants responsible for mitochondrial diseases (IMAGE)

Juntendo University Research Promotion Center

Researchers have developed a high-throughput assay to validate ECHS1 VUS variants responsible for mitochondrial diseases

Caption

The assay can speed up mitochondrial disease diagnosis considerably

Credit

Yasushi Okazaki from Juntendo University School of Medicine

Usage Restrictions

Cannot be reused without permission

License

Original content

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.