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- Chen, Chi-An, et al. Show all 12 Authors
- Gene 2014 v.548 pp. 299-305
- allelic dropouts; amino acids; biopsy; diagnostic techniques; embryo transfer; genetic markers; mutation; quantitative polymerase chain reaction; risk
- ... Although co-amplification of polymorphic microsatellite markers is the current gold standard for preimplantation genetic diagnosis (PGD) of single-gene disorders (SGD), this approach can be hampered by the lack of availability of informative markers. We recently (2011) devised a novel in-house assay for PGD of aromatic l-amino acid decarboxylase deficiency, based on an amplification refractory mut ...
- Chen, Chi-An, 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 ...