A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

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...

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Autores principales: Morgan, Neil V, Hartley, Jane L, Setchell, Kenneth DR, Simpson, Michael A, Brown, Rachel, Tee, Louise, Kirkham, Sian, Pasha, Shanaz, Trembath, Richard C, Maher, Eamonn R, Gissen, Paul, Kelly, Deirdre A
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2013
Materias:
Letter to the Editor
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3659031/
https://ncbi.nlm.nih.gov/pubmed/23679950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-74
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