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

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 it to th...

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Detalles Bibliográficos
Autores principales: Peng, Dai, Ganye, Zhao, Gege, Sun, Yanjie, Xia, Ning, Liu, Xiangdong, Kong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684071/
https://www.ncbi.nlm.nih.gov/pubmed/34920737
http://dx.doi.org/10.1186/s12920-021-01141-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8684071/
https://www.ncbi.nlm.nih.gov/pubmed/34920737
http://dx.doi.org/10.1186/s12920-021-01141-4

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