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Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype Phasing

2019-07-31

Abstract excerpt

<h4>Objective</h4> We aimed to investigate the validity of noninvasive prenatal diagnosis (NIPD) based on direct haplotype phasing without the proband and its feasibility for clinical application in the case of Duchenne Muscular Dystrophy (DMD). <h4>Methods</h4> Thirteen singleton-pregnancy families affected by DMD were recruited. Firstly, we resolved maternal haplotypes for each family by performing targeted li...

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Literature Corpus work
3f14ed2e-30d5-551b-a1cf-4d6cb45db4af
DOI
10.1101/720987
Open publication

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Noninvasive Prenatal Diagnosis for Duchenne Muscular Dystrophy Based on the Direct Haplotype PhasingDOI 10.1101/720987
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