Publications by authors named "Michal Yahav"
Article Synopsis
- The study aimed to identify the gene responsible for autosomal recessive infantile bilateral striatal necrosis through genetic mapping in a cohort of families.
- Sequencing revealed a specific missense mutation (Q391P) in the nup62 gene present in all affected patients, while no pathogenic changes were found in other candidate genes.
- The findings indicate that nup62 is crucial for basal ganglia health and represent a rare case of a nuclear pore complex protein linked to human genetic diseases.
