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XB--948121
Papers associated with arfgap1 (and OMIM)
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Molecular Mechanism of Autosomal Recessive Long QT-Syndrome 1 without Deafness., Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann BM, Decher N., Int J Mol Sci. January 23, 2021; 22 (3):  |
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High incidence of functional ion-channel abnormalities in a consecutive Long QT cohort with novel missense genetic variants of unknown significance., Steffensen AB, Refaat MM, David JP, Mujezinovic A, Calloe K, Wojciak J, Nussbaum RL, Scheinman MM, Schmitt N., Sci Rep. January 12, 2015; 5 10009.  |
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Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process., Tsuji-Wakisaka K, Akao M, Ishii TM, Ashihara T, Makiyama T, Ohno S, Toyoda F, Dochi K, Matsuura H, Horie M., Biochim Biophys Acta. November 1, 2011; 1812 (11): 1452-9. |
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Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)., Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R., J Clin Invest. August 1, 2002; 110 (3): 381-8. |
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Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants., Abitbol I, Peretz A, Lerche C, Busch AE, Attali B., EMBO J. August 2, 1999; 18 (15): 4137-48. |
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