Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks

Prenatal diagnosis of de novo DMD duplication by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal screening (NIPS) at 11 gestational weeks

Objective: Dystrophinopathy is an X-linked recessive muscular dystrophy caused by mutations in the DMD gene. Herein we describe the prenatal detection of DMD gene mutations in a patient with no family history, by multiplex ligation-dependent probe amplification (MLPA) after noninvasive prenatal scre...

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Bibliographic Details
Main Authors: Soo Hyun Kim, So Yeon Hong, Min Jin Lee, Kyung Min Kang, Ji Eun Park, Sung Han Shim, Dong Hyun Cha
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Duchenne muscular dystrophy
Dystrophin
Prenatal diagnosis
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455921000863

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http://www.sciencedirect.com/science/article/pii/S1028455921000863

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