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4. Familial pseudohyperkalemia maps to the same locus as dehydrated hereditary stomatocytosis (hereditary xerocytosis). Iolascon A, Stewart GW, Ajetunmobi JF, Perrotta S, Delaunay J, Carella M, Zelante L, Gasparini P. Blood; 1999 May 01; 93(9):3120-3. PubMed ID: 10216110 [Abstract] [Full Text] [Related]
11. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Andolfo I, Alper SL, De Franceschi L, Auriemma C, Russo R, De Falco L, Vallefuoco F, Esposito MR, Vandorpe DH, Shmukler BE, Narayan R, Montanaro D, D'Armiento M, Vetro A, Limongelli I, Zuffardi O, Glader BE, Schrier SL, Brugnara C, Stewart GW, Delaunay J, Iolascon A. Blood; 2013 May 09; 121(19):3925-35, S1-12. PubMed ID: 23479567 [Abstract] [Full Text] [Related]
15. Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form. Gore DM, Layton M, Sinha AK, Williamson PJ, Vaidya B, Connolly V, Mannix P, Chetty MC, Nicolaou A, Stewart GW. Br J Haematol; 2004 May 09; 125(4):521-7. PubMed ID: 15142123 [Abstract] [Full Text] [Related]
17. Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia. Andolfo I, Russo R, Manna F, De Rosa G, Gambale A, Zouwail S, Detta N, Pardo CL, Alper SL, Brugnara C, Sharma AK, De Franceschi L, Iolascon A. Haematologica; 2016 Aug 09; 101(8):909-17. PubMed ID: 27151991 [Abstract] [Full Text] [Related]
18. Hereditary stomatocytosis: membrane and metabolism studies. Mentzer WC, Smith WB, Goldstone J, Shohet SB. Blood; 1975 Nov 09; 46(5):659-69. PubMed ID: 1174702 [Abstract] [Full Text] [Related]
19. Characteristics of the membrane defect in the hereditary stomatocytosis syndrome. Wiley JS, Ellory JC, Shuman MA, Shaller CC, Cooper RA. Blood; 1975 Sep 09; 46(3):337-56. PubMed ID: 1148392 [Abstract] [Full Text] [Related]
20. Stomatocytosis is absent in "stomatin"-deficient murine red blood cells. Zhu Y, Paszty C, Turetsky T, Tsai S, Kuypers FA, Lee G, Cooper P, Gallagher PG, Stevens ME, Rubin E, Mohandas N, Mentzer WC. Blood; 1999 Apr 01; 93(7):2404-10. PubMed ID: 10090952 [Abstract] [Full Text] [Related] Page: [Next] [New Search]