Humpath.com - Human pathology

Home > A. Molecular pathology > ABCB4

ABCB4

MIM.171060 7q21.1

Wednesday 4 June 2003

Pathology

- MDR3/ABCB4 germline mutations in

IHC

- BSEP and MDR3 are useful Immunohistochemical Markers to Discriminate Hepatocellular Carcinomas From Intrahepatic Cholangiocarcinomas and Hepatoid Carcinomas. (26735860)

See also

- P-glycoproteins

Paywall References

- BSEP and MDR3: Useful Immunohistochemical Markers to Discriminate Hepatocellular Carcinomas From Intrahepatic Cholangiocarcinomas and Hepatoid Carcinomas. Fujikura K, Yamasaki T, Otani K, Kanzawa M, Fukumoto T, Ku Y, Hirose T, Itoh T, Zen Y. Am J Surg Pathol. 2016 May;40(5):689-96. doi : 10.1097/PAS.0000000000000585
PMID: 26735860

- A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Gotthardt D, Runz H, Keitel V, Fischer C, Flechtenmacher C, Wirtenberger M, Weiss KH, Imparato S, Braun A, Hemminki K, Stremmel W, Rüschendorf F, Stiehl A, Kubitz R, Burwinkel B, Schirmacher P, Knisely AS, Zschocke J, Sauer P. Hepatology. 2008 Oct;48(4):1157-66. PMID: 18781607

- Rosmorduc O, Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis. 2007 Jun 11;2(1):29. PMID: 17562004