Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Abstract Background Phenylketonuria (PKU) is a metabolic disease that can cause severe and irreversible brain damage without treatment. Methods Here we developed a non-invasive prenatal diagnosis (NIPD) technique based on haplotypes via paired-end molecular tags and weighting algorithm and applied i...

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Main Authors: Dai Peng (Author), Zhao Ganye (Author), Sun Gege (Author), Xia Yanjie (Author), Liu Ning (Author), Kong Xiangdong (Author)
Format: Book
Published: BMC, 2021-12-01T00:00:00Z.
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