Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell Recognition
Richards, Anna, Buddles, Mark R., Donne, Rosemary L., Kaplan, Bernard S., Kirk, Edwin, Venning, Michael C., Tielemans, Christian L., Goodship, Judith A., Goodship, Timothy H.J.
Published in American journal of human genetics (01.02.2001)
Published in American journal of human genetics (01.02.2001)
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Phenotypic diversity associated with the mitochondrial m.8313G>A point mutation
O'Rourke, Killian, Buddles, Mark R., Farrell, Michael, Howley, Rachel, Sukuraman, Sunita, Connolly, Sean, Turnbull, Douglass M., Hutchinson, Michael, Taylor, Robert W.
Published in Muscle & nerve (01.10.2009)
Published in Muscle & nerve (01.10.2009)
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Double Trouble? CMC with a Mutation in both AIRE and STAT1
Al Dhanhani, Huda, Al Shehri, Tariq, Lilic, Desa, Buddles, Mark, Kisand, Kai, Maccari, Maria E., Leahy, Timothy Ronan
Published in Journal of clinical immunology (01.08.2018)
Published in Journal of clinical immunology (01.08.2018)
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