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- Hung, Chia-Cheng, et al. Show all 10 Authors
- Electrophoresis 2008 v.29 no.3 pp. 618-625
- electrophoresis; gene dosage; genes; patients; peripheral nervous system diseases; polymerase chain reaction; restriction fragment length polymorphism
- ... We evaluated the efficacy of PCR-RFLP, competitive multiplex PCR, and a commercially available system of multiplex ligation-dependent probe amplification (MLPA) for the determination of deletion and duplication genotypes of the PMP22 gene. We compared the methods for efficiency, sensitivity, and specificity. We determined the gene dosage of the PMP22 gene via PCR-RFLP, competitive multiplex PCR, a ...
- Hung, Chia-Cheng, et al. Show all 12 Authors
- 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 ...