Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Mizutani A, Sabu Y, Naoi S, Ito S, Nakano S, Minowa K, Mizuochi T, Ito K, Abukawa D, Kaji S, Sasaki M, Muroya K, Azuma Y, Watanabe S, Oya Y, Inomata Y, Fukuda A, Kasahara M, Inui A, Takikawa H, Kusuhara H, Bessho K, Suzuki M, Togawa T, Hayashi H.
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
van Dijk MJ, van Oirschot BA, Harrison AN, Recktenwald SM, Qiao M, Stommen A, Cloos AS, Vanderroost J, Terrasi R, Dey K, Bos J, Rab MAE, Bogdanova A, Minetti G, Muccioli GG, Tyteca D, Egée S, Kaestner L, Molday RS, van Beers EJ, van Wijk R.