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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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Jin, Pengzhen, Gao, Xiaoyang, Wang, Miaomiao, Qian, Yeqing, Yang, Jingjin, Yang, Yanmei, Xu, Yuqing, Xu, Yanfei, Dong, Minyue
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021
Assuntos:
Genetics
Acesso em linha: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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