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Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia

Objective: To investigate the feasibility of whole exome sequencing (WES) and whole genome re-sequencing (WGS) in the prenatal diagnosis of achondroplasia (ACH). Methods: Eleven highly suspected with ACH or hypochondroplasia (HCH) fetuses and their parents were enrolled in this study. Routine prenat...

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Bibliografske podrobnosti
izdano v:Int J Clin Exp Med
Main Authors: Zhao, Rong, Ruan, Yan, Wang, Xin
Format: Artigo
Jezik:Inglês
Izdano: e-Century Publishing Corporation 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694460/
https://ncbi.nlm.nih.gov/pubmed/26770560
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