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...

Descripción completa

Detalles Bibliográficos
Autores principales: Jin, Pengzhen, Gao, Xiaoyang, Wang, Miaomiao, Qian, Yeqing, Yang, Jingjin, Yang, Yanmei, Xu, Yuqing, Xu, Yanfei, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280780/
https://www.ncbi.nlm.nih.gov/pubmed/34276787
http://dx.doi.org/10.3389/fgene.2021.686993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8280780/
https://www.ncbi.nlm.nih.gov/pubmed/34276787
http://dx.doi.org/10.3389/fgene.2021.686993

Ejemplares similares