ABCMdb

PMID: 19750581

Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely AS, Sornmayura P, Jirsa M
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
World J Gastroenterol. 2009 Sep 14;15(34):4339-42., 2009-09-14 [PubMed]

Sentences

No. Mutations Sentence Comment

87 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly E297G and D482G are the two most common mutations in persons of European descent, and account for approximately 58% of BSEP mutations in European studies[7] . Login to comment 89 ABCB11 p.Arg575* ABCB11 p.Glu636Gly ABCB11 p.Arg487His Goto et al[14] have reported four mutations in ABCB11, predicted to yield V330X, R487H, R575X and E636G, in two Japanese PFIC patients. Login to comment 90 ABCB11 p.Arg487His ABCB11 p.Gly1004Asp ABCB11 p.Val284Leu ABCB11 p.Met183Val ABCB11 p.Trp493* ABCB11 p.Arg303Lys Chen et al[13] have reported seven BSEP mutations (M183V, V284L, R303K, R487H, W493X, G1004D and 1145delC) in four PFIC patients of Chinese descent; none of these mutations has been described in Caucasian patients. Login to comment