| 1 | DFNA64, DIABLO |
| Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64. | |
| Cheng J, Zhu Y, He S, Lu Y, Chen J, Han B, Petrillo M, Wrzeszczynski KO, Yang S, Dai P, Zhai S, Han D, Zhang MQ, Li W, Liu X, Li H, Chen ZY, Yuan H. | |
| Am J Hum Genet 89(1):56-66. doi: 10.1016/j.ajhg.2011.05.027. Epub 2011 Jun 30. 2011 | |