Article
Validating a rapid, real-time, PCR-based direct mutation detection assay for preimplantation genetic diagnosis.
Gene - 15 Sept 2014
Chen Hsin-Fu, Chang Shun-Ping, Wu Sheng-Hai, Lin Wen-Hsiang, Lee Yi-Chung, Ni Yen-Hsuan, Chen Chi-An, Ma Gwo-Chin, Ginsberg Norman A, You En-Min, Tsai Feng-Po, Chen Ming
Abstract excerpt
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 mutation system and...
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