Article

Noninvasive prenatal diagnosis for Hemophilia A by haplotype-based approach using cell-free fetal DNA in maternal plasma

2019-02-28

Abstract excerpt

<h4>Objectives</h4> This study was used to demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis for Hemophilia A. <h4>Methods</h4> Two families affected by Hemophilia A participated in our study. Maternal haplotypes associated with pathogenic mutation was built using targeted region genotypes of mother and the proband. Combined with maternal pathogenic haplotype, a Hidden Markov Model wa...

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Literature Corpus work: 338c79e3-6554-5850-98a2-d97ef5e02ea5
DOI: 10.1101/563429

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