Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

doi:10.1016/j.tjog.2011.10.012

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Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

Taiwanese journal of obstetrics & gynecology - 1 Dec 2011

Kuo Shou-Jen, Ma Gwo-Chin, Chang Shun-Ping, Wu Hsin-Hung, Chen Chih-Ping, Chang Tung-Ming, Lin Wen-Hsiang, Wu Sheng-Hai, Lee Mei-Hui, Hwu Wuh-Liang, Chen Ming

Abstract excerpt

OBJECTIVES: To develop a diagnostic platform for preimplantation genetic diagnosis (PGD) and prenatal genetic diagnosis (PND) to prevent births of aromatic L-amino acid decarboxylase deficiency (AADC) patients. MATERIALS AND METHODS: Five Taiwanese families carrying AADC were enrolled. A novel technique, amplification refractory mutation system-quantitative polymerase chain reaction (ARMS-qPCR), was developed for...

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Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction.

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