Article
A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.
Orphanet journal of rare diseases - 16 May 2013
Morgan Neil V, Hartley Jane L, Setchell Kenneth D R, Simpson Michael A, Brown Rachel, Tee Louise, Kirkham Sian, Pasha Shanaz, Trembath Richard C, Maher Eamonn R, Gissen Paul, Kelly Deirdre A
Abstract excerpt
Infantile cholestatic diseases can be caused by mutations in a number of genes involved in different hepatocyte molecular pathways. Whilst some of the essential pathways have a well understood function, such as bile biosynthesis and transport, the role of the others is not known. Here we report the findings of a clinical, biochemical and molecular study of a family with three patients affected with a severe...
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