ABCMdb

PMID: 20683202

Arnell H, Papadogiannakis N, Zemack H, Knisely AS, Nemeth A, Fischler B
Follow-up in children with progressive familial intrahepatic cholestasis after partial external biliary diversion.
J Pediatr Gastroenterol Nutr. 2010 Oct;51(4):494-9., [PubMed]

Sentences

No. Mutations Sentence Comment

116 ABCB11 p.Glu297Gly Genetic Findings and Outcome After PEBD As shown earlier, disease in patients homozygous for the missense mutation c.890A>G (p.E297G) exhibits a wide phenotypic spectrum from disease resembling ''benign`` recurrent intrahepatic cholestasis (20) to severe PFIC (18). Login to comment 117 ABCB11 p.Glu297Gly In our group of children, outcome after PEBD was good in those homozygous for c.890A>G (p.E297G). Login to comment 122 ABCB11 p.Glu297Gly One child homozygous for c.890A>G (p.E297G) was diagnosed with HCC at an early age. Login to comment