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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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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2012
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605788/ https://www.ncbi.nlm.nih.gov/pubmed/23222959 http://dx.doi.org/10.1038/ng.2492

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