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Reliable Detection of Paternal SNPs within Deletion Breakpoints for Non-Invasive Prenatal Exclusion of Homozygous α(0)-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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Detalles Bibliográficos
Autores principales: Yan, Ti-Zhen, Mo, Qiu-Hua, Cai, Ren, Chen, Xue, Zhang, Cui-Mei, Liu, Yan-Hui, Chen, Ya-Jun, Zhou, Wan-Jun, Xiong, Fu, Xu, Xiang-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182989/
https://www.ncbi.nlm.nih.gov/pubmed/21980356
http://dx.doi.org/10.1371/journal.pone.0024779