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Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S.
Stewart AK, Shmukler BE, Vandorpe DH, Rivera A, Heneghan JF, Li X, Hsu A, Karpatkin M, O'Neill AF, Bauer DE, Heeney MM, John K, Kuypers FA, Gallagher PG, Lux SE, Brugnara C, Westhoff CM, Alper SL. Stewart AK, et al. Among authors: alper sl. Am J Physiol Cell Physiol. 2011 Dec;301(6):C1325-43. doi: 10.1152/ajpcell.00054.2011. Epub 2011 Aug 17. Am J Physiol Cell Physiol. 2011. PMID: 21849667 Free PMC article.
Erythrocytes from hereditary xerocytosis patients heterozygous for KCNN4 V282M exhibit increased spontaneous Gardos channel-like activity inhibited by senicapoc.
Rivera A, Vandorpe DH, Shmukler BE, Gallagher DR, Fikry CC, Kuypers FA, Brugnara C, Snyder LM, Alper SL. Rivera A, et al. Among authors: alper sl. Am J Hematol. 2017 Jun;92(6):E108-E110. doi: 10.1002/ajh.24716. Epub 2017 Apr 29. Am J Hematol. 2017. PMID: 28295477 Free article. No abstract available.
355 results