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17 Until now, only five biallelic mutations had been reported in 10 unrelated families, including a recurrent homozygous nonsense mutation p.(Gln225*) in six patients (refs
MedComm 4:e247
ZhuYWangRFanZLuoDCaiGLiXet al
Gastroenterology 167(1):90103 Drfel MJ, Westphal JK, Bellmann C, Krug SM, Cording J, Mittag S, Tauber R, Fromm M, Blasig IE, Huber O (2013) Ck2-dependent phosphorylation of occludin regulates the interaction with zo-proteins and tight junction integrity
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