검색결과 : 17건
| No. | Article |
|---|---|
| 1 |
The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations Zou Y, Jia XY, Zhang AM, Wang WZ, Li SQ, Guo XM, Kong QP, Zhang QJ, Yao YG Biochemical and Biophysical Research Communications, 399(2), 179, 2010 |
| 2 |
Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation Liang M, Guan MQ, Zhao FX, Zhou XT, Yuan MX, Tong Y, Yang L, Wei QP, Sun YH, Lu F, Qu J, Guan MX Biochemical and Biophysical Research Communications, 383(3), 286, 2009 |
| 3 |
Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation Yang JH, Zhu YH, Tong Y, Chen L, Liu LJ, Zhang ZQ, Wang XY, Huang DG, Qiu WT, Zhuang SL, Ma X Biochemical and Biophysical Research Communications, 386(1), 50, 2009 |
| 4 |
Novel A14841G mutation is associated with high penetrance of LHON/C4171A family Yang JH, Zhu YH, Chen L, Zhang HX, Tong Y, Huang DG, Zhang ZQ, Chen S, Han XL, Ma X Biochemical and Biophysical Research Communications, 386(4), 693, 2009 |
| 5 |
Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation Zhao FX, Guan MQ, Zhou XT, Yuan MX, Liang M, Liu Q, Liu Y, Zhang YM, Yang L, Tong Y, Wei QP, Sun YH, Qu J, Guan MX Biochemical and Biophysical Research Communications, 389(3), 466, 2009 |
| 6 |
Co-occurrence of A1555G and G11778A in a Chinese family with high penetrance of Leber's hereditary optic neuropathy Zhang AM, Jia XY, Yao YG, Zhang QJ Biochemical and Biophysical Research Communications, 376(1), 221, 2008 |
| 7 |
Mitochondrial tRNA(Ser(UCN)) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss Jin LJ, Yang AF, Zhu Y, Zhao JY, Wang XJ, Yang L, Sun DM, Tao ZH, Tsushima A, Wu GM, Xu LM, Chen CX, Yi B, Cai JX, Tang XW, Wang J, Li D, Yuan Q, Liao ZS, Chen JF, Li ZY, Lu JX, Guan MX Biochemical and Biophysical Research Communications, 361(1), 133, 2007 |
| 8 |
Coexistence of mitochondrial 12S rRNA C1494T and CO1/tRNA(Ser(UCN)) G7444A mutations in two Han Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing loss Yuan H, Chen J, Llu X, Cheng J, Wang X, Yang L, Yang S, Cao J, Kang D, Dal P, Zhai S, Han D, Young WY, Guan MX Biochemical and Biophysical Research Communications, 362(1), 94, 2007 |
| 9 |
Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families Zhou XT, Wei QP, Yang L, Tong Y, Zhao FX, Lu CJ, Qian YP, Sun YH, Lu F, Qu J, Guan MX Biochemical and Biophysical Research Communications, 340(1), 69, 2006 |
| 10 |
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness Dai P, Liu X, Han DY, Qian YP, Huang DL, Yuan HJ, Li WM, Yu F, Zhang RN, Lin HY, He Y, Yu YJ, Sun QZ, Qin HY, Li RH, Zhang X, Kang DY, Cao JY, Young WY, Guan MX Biochemical and Biophysical Research Communications, 340(1), 194, 2006 |