Mutations in TJP2 cause progressive cholestatic liver disease.
Nature Genetics
Sambrotta, Melissa M; Strautnieks, Sandra S; Papouli, Efterpi E; Rushton, Peter P; Clark, Barnaby E BE; Parry, David A DA; Logan, Clare V CV; Newbury, Lucy J LJ; Kamath, Binita M BM; Ling, Simon S; Grammatikopoulos, Tassos T; Wagner, Bart E BE; Magee, John C JC; Sokol, Ronald J RJ; Mieli-Vergani, Giorgina G; , ; Smith, Joshua D JD; Johnson, Colin A CA; McClean, Patricia P; Simpson, Michael A MA; Knisely, A S AS; Bull, Laura N LN; Thompson, Richard J RJ