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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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| Publié dans: | Front Genet |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Frontiers Media S.A.
2021
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| Sujets: | |
| Accès en ligne: | 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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