Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma.

Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma.

Reliable detection of large deletions from cell-free fetal DNA (cffDNA) in maternal plasma is challenging, especially when both parents have the same deletion owing to a lack of specific markers for fetal genotyping. In order to evaluate the efficacy of a non-invasive prenatal diagnosis (NIPD) test...

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Bibliographic Details
Main Authors: Ti-Zhen Yan, Qiu-Hua Mo, Ren Cai, Xue Chen, Cui-Mei Zhang, Yan-Hui Liu, Ya-Jun Chen, Wan-Jun Zhou, Fu Xiong, Xiang-Min Xu
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2011-01-01
Series:PLoS ONE
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21980356/pdf/?tool=EBI

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21980356/pdf/?tool=EBI

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