Clinical, molecular, histopathological and ultrastructural findings for the patients. Table S1 Clinical and molecular findings in the DNM2 severe cases. Figure S1 Histopathological and ultrastructural
Bloom syndrome helicase (BLM) is a RecQ-family helicase implicated in a variety of cellular processes, including DNA replication, DNA repair, and telomere maintenance. Mutations in human BLM cause Blo
Identifying resistance mutations in a drug target provides crucial information. Lentiviral transduction creates multiple types of mutations due to the error-prone nature of the HIV-1 reverse transcrip
