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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...
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| 出版年: | JAMA Neurol |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2014
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| 主題: | |
| オンライン･アクセス: | 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 |
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