Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted...

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Udgivet i:Nat Commun
Main Authors: Docherty, Louise E., Rezwan, Faisal I., Poole, Rebecca L., Turner, Claire L. S., Kivuva, Emma, Maher, Eamonn R., Smithson, Sarah F., Hamilton-Shield, Julian P., Patalan, Michal, Gizewska, Maria, Peregud-Pogorzelski, Jaroslaw, Beygo, Jasmin, Buiting, Karin, Horsthemke, Bernhard, Soellner, Lukas, Begemann, Matthias, Eggermann, Thomas, Baple, Emma, Mansour, Sahar, Temple, I. Karen, Mackay, Deborah J. G.
Format: Artigo
Sprog:Inglês
Udgivet: Nature Pub. Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4568303/
https://ncbi.nlm.nih.gov/pubmed/26323243
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms9086
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