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

• Main Authors: Shou-Jen Kuo (Author), Gwo-Chin Ma (Author), Shun-Ping Chang (Author), Hsin-Hung Wu (Author), Chih-Ping Chen (Author), Tung-Ming Chang (Author), Wen-Hsiang Lin (Author), Sheng-Hai Wu (Author), Mei-Hui Lee (Author), Wuh-Liang Hwu (Author), Ming Chen (Author)
• Format: Book
• Published: Elsevier, 2011-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 techn...