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A case for expanding carrier testing to include actionable X‐linked disorders
A research study utilizing whole‐genome sequence analysis for preconception carrier screening provided a genome‐first detection of a severe de novo Factor VIII mutation in a woman with implications for pregnancy management and life‐saving interventions of her newborn son, and a challenge to the exis...
Autores principales: | Rope, Alan F., Kauffman, Tia L., Himes, Pat, Amendola, Laura M., Punj, Sumit, Akkari, Yassmine, Potter, Amiee, Davis, James V., Schneider, Jennifer L., Reiss, Jacob A., Gilmore, Mari J., McMullen, Carmit K., Nickerson, Deborah A., Richards, C. Sue, Jarvik, Gail P., Wilfond, Benjamin S., Goddard, Katrina A. B. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230667/ https://www.ncbi.nlm.nih.gov/pubmed/30455898 http://dx.doi.org/10.1002/ccr3.1806 |
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