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A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
van Dijk MJ, van Oirschot BA, Harrison AN, Recktenwald SM, Qiao M, Stommen A, Cloos AS, Vanderroost J, Terrasi R, Dey K, Bos J, Rab MAE, Bogdanova A, Minetti G, Muccioli GG, Tyteca D, Egée S, Kaestner L, Molday RS, van Beers EJ, van Wijk R. van Dijk MJ, et al. Among authors: harrison an. Am J Hematol. 2023 Dec;98(12):1877-1887. doi: 10.1002/ajh.27088. Epub 2023 Sep 6. Am J Hematol. 2023. PMID: 37671681 Free article.
ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart C, Harrison AN, Benkirane M, Oncel I, Arslan EA, Chassevent AK, Baraῆano K, Larrieu L, Iascone M, Tenconi R, Claustres M, Eroglu-Ertugrul N, Calvas P, Topaloglu H, Molday RS, Koenig M. Guissart C, et al. Among authors: harrison an. J Neurol. 2020 Jan;267(1):203-213. doi: 10.1007/s00415-019-09579-4. Epub 2019 Oct 14. J Neurol. 2020. PMID: 31612321 Free article.