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Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.

Nat Genet 34:91-6 (2003)
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Qiu JW, Deng M, Cheng Y, Atif RM, Lin WX, Guo L, Li H, Song YZ

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency: Identification of a novel SLC10A1 mutation in two unrelated infants presenting with neonatal indirect hyperbilirubinemia and remarkable hypercholanemia.

Oncotarget 8:106598-106607 (2017)
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