Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Germline mosaicism should be suspected when the same de novo mutations are identified in a second pregnancy with asymptomatic parents. Our study aims to find a feasible approach to reveal the existence of germline mosaicism. Multiplex Ligation-dependent Probe Amplification was performed on a Duchenn...

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Detaylı Bibliyografya
Yayımlandı:Front Genet
Asıl Yazarlar: Jin, Pengzhen, Gao, Xiaoyang, Wang, Miaomiao, Qian, Yeqing, Yang, Jingjin, Yang, Yanmei, Xu, Yuqing, Xu, Yanfei, Dong, Minyue
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2021
Konular:
Genetics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC8280780/
https://ncbi.nlm.nih.gov/pubmed/34276787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.686993
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