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

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

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...

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Bibliographic Details
Main Authors: Shou-Jen Kuo, Gwo-Chin Ma, Shun-Ping Chang, Hsin-Hung Wu, Chih-Ping Chen, Tung-Ming Chang, Wen-Hsiang Lin, Sheng-Hai Wu, Mei-Hui Lee, Wuh-Liang Hwu, Ming Chen
Format: Article
Language:English
Published: Elsevier 2011-12-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
AADC
ARMS
PGD
PND
qPCR
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455911001719

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http://www.sciencedirect.com/science/article/pii/S1028455911001719

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