1 | MTDFN1, TRNH |
Maternally transmitted late-onset non-syndromic deafness is associated with the novel heteroplasmic T12201C mutation in the mitochondrial tRNAHis gene. | |
Yan X, Wang X, Wang Z, Sun S, Chen G, He Y, Mo JQ, Li R, Jiang P, Lin Q, Sun M, Li W, Bai Y, Zhang J, Zhu Y, Lu J, Yan Q, Li H, Guan MX. | |
J Med Genet 48(10):682-90. doi: 10.1136/jmedgenet-2011-100219. 2011 | |
2 | TRNH |
novel homoplasmic mutation in mtDNA with a single evolutionary origin as a risk factor for cardiomyopathy. | |
Shin, W. | |
Am. J. Hum. Genet 67: 1617-1620. 2000 | |