Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

Adaptor protein-2 (AP2), a central component of clathrin-coated vesicles (CCVs), is pivotal in clathrin-mediated endocytosis which internalises plasma membrane constituents such as G protein-coupled receptors (GPCRs)(1-3) . AP2, a heterotetramer of alpha, beta, mu and sigma subunits, links clathrin...

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Auteurs principaux: Nesbit, M. Andrew, Hannan, Fadil M., Howles, Sarah A., Reed, Anita A.C., Cranston, Treena, Thakker, Clare E., Gregory, Lorna, Rimmer, Andrew J., Rust, Nigel, Graham, Una, Morrison, Patrick J., Hunter, Steven J., Whyte, Michael P., McVean, Gil, Buck, David, Thakker, Rajesh V.
Format: Artigo
Langue:Inglês
Publié: 2012
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3605788/
https://ncbi.nlm.nih.gov/pubmed/23222959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2492
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