Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping

Here, we evaluate the applicability of a new method that combines targeted next-generation sequencing (NGS) with targeted haplotyping in identifying PKD2 gene mutations in human preimplantation embryos in vitro. To achieve this goal, a proband family with a heterozygous deletion of c.595_595 + 14del...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Chen, Song-Chang, Xu, Xiao-Li, Zhang, Jun-Yu, Ding, Guo-Lian, Jin, Li, Liu, Bei, Sun, Dong-Mei, Mei, Chang-Lin, Yang, Xiao-Nan, Huang, He-Feng, Xu, Chen-Ming
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4858692/
https://ncbi.nlm.nih.gov/pubmed/27150309
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep25488
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