Items where Author is "Wade, Nicholas M."
Number of items: 2. 2009Rio Frio, Thomas and McGee, Terri L. and Wade, Nicholas M. and Iseli, Christian and Beckmann, Jacques S. and Berson, Eliot L. and Rivolta, Carlo. (2009) A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Human mutation, 30 (9). pp. 1340-1347. 2008Rio Frio, Thomas and Wade, Nicholas M. and Ransijn, Adriana and Berson, Eliot L. and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Journal of Clinical Investigation, 118 (4). pp. 1519-1531. |