ABCMdb

PMID: 19133130

Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E
Progressive familial intrahepatic cholestasis.
Orphanet J Rare Dis. 2009 Jan 8;4:1., [PubMed]

Sentences

No. Mutations Sentence Comment

88 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Missense mutations are also common defects [25] that either affect protein processing and trafficking (i.e. p.E297G, p.D482G) [26,27] or disrupt functional domains and protein structure. Login to comment 89 ABCB11 p.Asn490Asp ABCB11 p.Gly562Asp ABCB11 p.Ala1110Glu ABCB11 p.Arg832Cys Thus detectable BSEP expression (i.e. p.N490D, p.G562D, p.R832C, p.A1110E) does not exclude functional BSEP deficiency. Login to comment 180 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly Preliminary data suggest that PFIC2 patients with p.D482G or p.E297G mutations may respond well to biliary diversion [60]. Login to comment