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Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in PRNP gene
IMPORTANCE: To describe the first case of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF) performed for the prevention of genetic prion disease in a 27-year-old asymptomatic woman with a known family history of Gerstmann-Sträussler-Sheinker syndrome (GSS). OBSERVATIONS: PGD...
Shranjeno v:
| izdano v: | JAMA Neurol |
|---|---|
| Main Authors: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4349573/ https://ncbi.nlm.nih.gov/pubmed/24493558 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaneurol.2013.5884 |
| Oznake: |
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