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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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Główni autorzy: | , , , , , , , , , , , |
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Format: | Artigo |
Język: | Inglês |
Wydane: |
BioMed Central
2013
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Hasła przedmiotowe: | |
Dostęp online: | 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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