Philippine Eloy and colleagues reporta study on Retinoblastoma (Rb) families resulting from inactivation of both alleles of the RB1 gene. They found a correlation between the gender of the transmitting carrier and penetrance in families segregating the common c.1981C>T (p.Arg661Trp) mutation and, consequently, investigated the putative involvement of an imprinted, modifier gene in low penetrance Rb (a MED4-driven mechanism by MED4 methylation).
Eloy, Philippine et al. PLOS Genet.
"Alamut enables us to interrogate and manage our data with ease. It has an intuitive interface, which brings together a range of routinely used resources, saving a significant amount of time & ensuring a consistent approach to variant interrogation."
KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals