The Molecular Biology Society of Japan

The 41st Annual Meeting of the Molecular Biology Society of Japan

The 41st Annual Meeting of the Molecular Biology Society of Japan

Nov 28, 2018 - Nov 30, 2018
Pacifico Yokohama

10:25 AM - 10:55 AM

[1AW-14-6] Genotype-Structure-Phenotype: what makes ATP1A3 mutations different

〇Kathleen J Sweadner1, Elena Arystarkhova1, Laurie J Ozelius1, John T Penniston1, Allison Brashear2 (1.Massachusetts General Hospital, Harvard Medical School, 2.Wake Forest University Medical School)

genetic variant, channelopathy, pathogenicity prediction, protein misfolding, protein structure

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