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Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators

Understanding how single nucleotide polymorphisms (SNPs) lead to disease at a molecular level provides a starting point for improved therapeutic intervention. SNPs in the innate immune receptor nucleotide oligomerisation domain 2 (NOD2) can cause the inflammatory disorders Blau Syndrome (BS) and ear...

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Autors principals: Parkhouse, Rhiannon, Boyle, Joseph P., Monie, Tom P.
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons Ltd 2014
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4158908/
https://ncbi.nlm.nih.gov/pubmed/25093298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.febslet.2014.07.029
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