Редактирование: ABCB4 (раздел)

==Publications==

{{medline-entry
|title=Cholestatic liver diseases from child to adult: the diversity of MDR3 disease.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/21638239
|abstract=The phospholipidfloppase MDR3 (gene symbol: [[ABCB4]]) is expressed in the canalicular membrane of hepatocytes and mediates the biliary excretion of phosphatidylcholine, which is required for the formation of mixed micelles in bile. Several mutations of [[ABCB4]] have been identified, which cause cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 3 (PFIC-3), intrahepatic cholestasis of pregnancy (ICP) and the low phospholipid associated cholelithiasis syndrome (LPAC). Here, we report on four new (S1076N; L 23Hfs16X; c.286   1G > A; Q 1181E) and one known (S27G) MDR3 mutations in eight patients of three families. The patients presented with a wide spectrum of liver diseases. The clinical presentation and decisive laboratory findings or the association to a trend-setting family history led to the identification of the genetic background in these patients. Even the same mutation may be associated with varying disease progression.
|mesh-terms=* ATP Binding Cassette Transporter, Subfamily B
* Adult
* Aging
* Child, Preschool
* Cholestasis, Intrahepatic
* Genetic Predisposition to Disease
* Genetic Variation
* Heterozygote
* Humans
* Infant
* Male
* Mutation
* Pedigree

|full-text-url=https://sci-hub.do/10.1055/s-0031-1273427
}}