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- Hung, Chia-Cheng; Chien, Shu-Chin; Lin, Chia-Yun; Chang, Chien-Hui; Chang, Yin-Fei; Jong, Yuh-Jyh; Hsieh, Sung-Tsang; Hsieh, Wu-Shiun; Liu, Ming S.; Lin, Win-Li; Lee, Chien-Nan; Su, Yi-Ning
- Electrophoresis 2007 v.28 no.16 pp. 2826-2834
- DNA; Down syndrome; electrophoresis; gene dosage; gene overexpression; genes; point mutation; polymerase chain reaction; rapid methods; trisomics
- ... Many genetic diseases are caused by the presence of point mutations, small insertions, and deletions in respective genes, and the number of diseases known to be caused by deletions and duplications involving large DNA genomes is increasing. These changes lead to underexpression or overexpression of the gene, according to changes in gene dosage. The methods for the detection of point mutations, sma ...