Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of HAO1 (expected ~1 in 30 million outbred people). HAO1 (glycolate oxidase) silencing is the mechanism of lumasiran, an investigational RNA interference therapeutic for primary hyperoxalu...

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Detalles Bibliográficos
Autores principales: McGregor, Tracy L, Hunt, Karen A, Yee, Elaine, Mason, Dan, Nioi, Paul, Ticau, Simina, Pelosi, Marissa, Loken, Perry R, Finer, Sarah, Lawlor, Deborah A, Fauman, Eric B, Huang, Qin Qin, Griffiths, Christopher J, MacArthur, Daniel G, Trembath, Richard C, Oglesbee, Devin, Lieske, John C, Erbe, David V, Wright, John, van Heel, David A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Genetics and Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7108859/
https://www.ncbi.nlm.nih.gov/pubmed/32207686
http://dx.doi.org/10.7554/eLife.54363

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