Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand

@article{Phasukkijwatana2010GenomewideLS,
  title={Genome-wide linkage scan and association study of PARL to the expression of LHON families in Thailand},
  author={Nopasak Phasukkijwatana and Bussaraporn Kunhapan and Jim M Stankovich and Wanicha L. Chuenkongkaew and Russell Thomson and Timothy Thornton and Melanie Bahlo and Taisei Mushiroda and Yusuke Nakamura and Surakameth Mahasirimongkol and Aung Win Tun and Chatchawan Srisawat and Chanin Limwongse and Chayanon Peerapittayamongkol and Thanyachai Sura and Wichit Suthammarak and Patcharee Lertrit},
  journal={Human Genetics},
  year={2010},
  volume={128},
  pages={39-49}
}
Leber hereditary optic neuropathy (LHON) is the most common mitochondrially inherited disease causing blindness, preferentially in young adult males. Most of the patients carry the G11778A mitochondrial DNA (mtDNA) mutation. However, the marked incomplete penetrance and the gender bias indicate some additional genetic and/or environmental factors to disease expression. Herein, we first conducted a genome-wide linkage scan with 400 microsatellite markers in 9 large Thai LHON G11778A pedigrees… CONTINUE READING
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