Browsing by Author "Turro, E"
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Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans.
Wei, W; Pagnamenta, AT; Gleadall, N; Sanchis-Juan, A; Stephens, J; Broxholme, J; Tuna, S; Odhams, CA; Genomics England Research Consortium; NIHR BioResource (2020-07-22)An amendment to this paper has been published and can be accessed via a link at the top of the paper. -
The Human Phenotype Ontology in 2017
Koehler, S; Vasilevsky, NA; Engelstad, M; Foster, E; McMurry, J; Ayme, S; Baynam, G; Bello, SM; Boerkoel, CF; Boycott, KM (2017-01-04) -
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function.
Chan, MV; Hayman, MA; Sivapalaratnam, S; Crescente, M; Allan, HE; Edin, ML; Zeldin, DC; Milne, GL; Stephens, J; Greene, D (2020-04-16)We have identified a rare missense variant on chromosome 9, position 125145990 (GRCh37), in exon 8 in PTGS1 (the gene encoding cyclo-oxygenase 1, COX-1, the target of anti-thrombotic aspirin therapy). We report that in the ... -
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, W; Pagnamenta, AT; Gleadall, N; Sanchis-Juan, A; Stephens, J; Broxholme, J; Tuna, S; Odhams, CA; Fratter, C; Turro, E (2020-04-08)