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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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Detaylı Bibliyografya
Yayımlandı:BMC Med Genet
Asıl Yazarlar: He, Wen-Bin, Tan, Yue-Qiu, Hu, Xiao, Li, Wen, Xiong, Bo, Luo, Ke-Li, Gong, Fei, Lu, Guang-Xiu, Lin, Ge, Du, Juan
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
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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