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

Scientific reports - 6 May 2016

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

Abstract excerpt

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 + 14delGGTAAGAGCGCGCGA in exon 1 of the PKD2 gene was studied. A total of 10 samples were analyzed, including 7 embryos. An...

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Identifiers

PMID: 27150309
DOI: 10.1038/srep25488
PMCID: PMC4858692

Genes

PKD2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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