Mitochondrial ND5 T12338C, tRNACys T5802C, and tRNAThr G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees

2008 ◽  
Vol 146A (10) ◽  
pp. 1248-1258 ◽  
Author(s):  
Bobei Chen ◽  
Dongmei Sun ◽  
Li Yang ◽  
Chuqin Zhang ◽  
Aifen Yang ◽  
...  
Keyword(s):  
Han Chinese ◽  
12S Rrna ◽  
A1555g Mutation ◽  
Phenotypic Manifestation

Mitochondrial 12S rRNA A1555G mutation associated with nonsyn-dromic hearing loss in twenty-five Han Chinese pedigrees

2013 ◽  
Vol 35 (1) ◽  
pp. 62-72 ◽  
Author(s):  
Guang-Hua PENG ◽  
Bin-Jiao ZHENG ◽  
Fang FANG ◽  
Yue WU ◽  
Ling-Zhi LIANG ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
12S Rrna ◽  
A1555g Mutation ◽  
Mitochondrial 12S Rrna

53. Mitochondrial tRNAThr G15927A variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation

Mitochondrion ◽  
2009 ◽  
Vol 9 (1) ◽  
pp. 74
Author(s):  
Xinjian Wang ◽  
Jianxin Lu ◽  
Aifen Yang ◽  
Li Yang ◽  
Yi Zhu ◽  
...  
Keyword(s):  
12S Rrna ◽  
A1555g Mutation ◽  
Phenotypic Manifestation

Very low penetrance of hearing loss in seven Han Chinese pedigrees carrying the deafness-associated 12S rRNA A1555G mutation

Gene ◽  
2007 ◽  
Vol 393 (1-2) ◽  
pp. 11-19 ◽  
Author(s):  
Xiaowen Tang ◽  
Li Yang ◽  
Yi Zhu ◽  
Zhisu Liao ◽  
Jindan Wang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Han Chinese ◽  
12S Rrna ◽  
A1555g Mutation
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