The Japanese Biochemical Society

[1P-244] Association of enzymatic activity with de novo missense mutations in ATP8B2, a phosphatidylcholine flippase

Hiroyuki Takatsu1, Alban Ziegler2, Haruo Ogawa3, Kazuhisa Nakayama1, Hye-Won Shin1 (1.Department of Physiological Chemistry, Graduate School of Pharmaceutical Sciences, Kyoto University, 2.Department of Medical Genetics, Angers University Hospital, France, 3.Department of Structural Biology, Graduate School of Pharmaceutical Sciences, Kyoto University)

キーテクノロジー:flippase assay

flippase、P4-ATPase、P-type ATPase、ATP8B1、ATP11C

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