Article
Co-segregation of the T1095C with the A1555G mutation of the mitochondrial 12S rRNA gene in a patient with non-syndromic hearing loss.
Biochemical and biophysical research communications - 26 Dec 2008
Dai Dachun, Lu Yajie, Chen Zhibin, Wei Qinjun, Cao Xin, Xing Guangqian
Abstract excerpt
We reported here the clinical and molecular characterization of a Chinese subject with childhood-onset hearing impairment. Clinical evaluations showed that the patient suffered from profound and non-syndromic sensorineural hearing loss with flat configurations. Sequence analysis of the mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes led to the identification of double deafness-associated mutations of A1555G and...
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