Anomalies:
Mutations in Progressive familial intrahepatic cholestasis type 2 (PFIC2)
See also
ABCBs
References
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely AS, Sornmayura P, Jirsa M. World J Gastroenterol. 2009 Sep 14;15(34):4339-42. PMID: 19750581
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing. Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ. Hepatology. 2009 Feb;49(2):553-67. PMID: 19101985