Periodic Reporting for period 1 - RTEL1inHHS (Characterization of RTEL1 mutations in Hoyeraal-Hreidarsson Syndrome)

Telomeres, which are DNA sequences located at chromosome ends, are critically maintained through the activity of telomerase, which adds telomeric repeats to solve the end replication problem, and RTEL1, an enzyme that DNA secondary structures at telomeres to facilitate...