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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Main Authors: Soo Hyun Kim (Author), So Yeon Hong (Author), Min Jin Lee (Author), Kyung Min Kang (Author), Ji Eun Park (Author), Sung Han Shim (Author), Dong Hyun Cha (Author)
Format: Book
Published: Elsevier, 2021-05-01T00:00:00Z.
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