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Article

Noninvasive prenatal diagnosis for Duchenne muscular dystrophy based on the direct haplotype phasing

9 Jan 2020

Abstract excerpt

OBJECTIVE: We aimed to investigate the validity of noninvasive prenatal diagnosis (NIPD) based on direct haplotype phasing without the proband or other family members and its feasibility for clinical application in the case of Duchenne muscular dystrophy (DMD). METHODS: Thirteen singleton-pregnancy families affected by DMD were recruited. The pathogenic variants in the pregnant females have been identified by...

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PMID: 31916613
DOI: 10.1002/pd.5641

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