Kearns–Sayre syndrome caused by defective R1/p53R2 assembly
Robert D S Pitceathly, Elisa Fassone, Jan-Willem Taanman, Michael Sadowski, Carl Fratter, Ese E Mudanohwo, Cathy E Woodward, Mary G Sweeney, Janice L Holton, Michael G Hanna, Shamima Rahman
Journal of Medical Genetics Sep 2011, 48 (9) 610-617; DOI: 10.1136/jmg.2010.088328