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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...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2012
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Materias: | |
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 |