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Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver...
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| Yayımlandı: | BMC Med Genet |
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| Asıl Yazarlar: | , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
BioMed Central
2018
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5784596/ https://ncbi.nlm.nih.gov/pubmed/29368589 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0525-9 |
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