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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: 2012
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Article
Online pristup: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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