Article

Haplotype-Based Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy: A pilot study in South China

2019-02-18

Abstract excerpt

<h4>Objective</h4> To explore the accuracy and feasibility of noninvasive prenatal diagnosis (NIPD) for Duchenne Muscular Dystrophy (DMD) based on the haplotype approach. <h4>Methods</h4> We recruited singleton pregnancies at-risk of DMD at 12-25 weeks of gestation from 17 families who all had a proband children affected by DMD. We have identified the pathogenic mutations in probands and their mothers by multipl...

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Literature Corpus work: 94d77a56-6530-53d8-a906-5fbcfe116fca
DOI: 10.1101/551200

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