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Rapid prenatal diagnosis of Facioscapulohumeral Muscular Dystrophy 1 by combined Bionano optical mapping and karyomapping
PURPOSE: To explore the feasibility of performing rapid prenatal diagnoses of FSHD1 using a combination of Bianano optical mapping and linkage‐based karyomapping. METHODS: DNA specimens from a family that had been previously diagnosed with FSHD1 using Southern Blot analysis were used for this study....
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Ltd.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7065173/ https://www.ncbi.nlm.nih.gov/pubmed/31711258 http://dx.doi.org/10.1002/pd.5607 |