Browsing Centre for Genomics and Child Health by Author "Fauman, EB"
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Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria.
McGregor, TL; Hunt, KA; Yee, E; Mason, D; Nioi, P; Ticau, S; Pelosi, M; Loken, PR; Finer, S; Lawlor, DA (2020-03-24)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 ...