PMID: 20425482

Santos JL, Choquette M, Bezerra JA
Cholestatic liver disease in children.
Curr Gastroenterol Rep. 2010 Feb;12(1):30-9., [PubMed]
Sentences
No. Mutations Sentence Comment
67 ABCB11 p.Asp482Gly
X
ABCB11 p.Asp482Gly 20425482:67:209
status: NEW
view ABCB11 p.Asp482Gly details
ABCB11 p.Glu297Gly
X
ABCB11 p.Glu297Gly 20425482:67:200
status: NEW
view ABCB11 p.Glu297Gly details
 Interestingly, 93% of the mutations produced abnormal or absent BSEP expression on liver biopsies; immunostaining identified a variable pattern of BSEP expression in patients carrying the most common E297G or D482G mutations, thus limiting the use of immunohistochemistry to reliably pinpoint BSEP deficiency. Login to comment 82 ABCB4 p.Ile541Phe
X
ABCB4 p.Ile541Phe 20425482:82:83
status: NEW
view ABCB4 p.Ile541Phe details
 This mechanism was illustrated in one study by tracking the signal produced by the I541F MDR3 mutant in liver and kidney cell lines, which was detected in the cytoplasm because of trapping within the ER and cis-Golgi [21]. Login to comment