An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy

Intrahepatic cholestasis of pregnancy (ICP) affects 1/140 UK pregnancies; with pruritus, hepatic impairment and elevated serum bile acids. Severe disease is complicated by spontaneous preterm delivery and stillbirth. Previous studies have reported mutations in hepatocellular transporters (ABCB4, ABC...

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Hlavní autoři: Dixon, Peter H., Sambrotta, Melissa, Chambers, Jennifer, Taylor-Harris, Pamela, Syngelaki, Argyro, Nicolaides, Kypros, Knisely, A. S., Thompson, Richard J., Williamson, Catherine
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2017
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5603585/
https://ncbi.nlm.nih.gov/pubmed/28924228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11626-x
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