Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.

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Adaptor protein-2 (AP2), a central component of clathrin-coated vesicles (CCVs), is pivotal in clathrin-mediated endocytosis, which internalizes plasma membrane constituents such as G protein-coupled receptors (GPCRs). AP2, a heterotetramer of α, β, μ and σ subunits, links clathrin to vesicle membra...

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Main Authors:	Nesbit, M, Hannan, F, Howles, SA, Reed, A, Cranston, T, Thakker, C, Gregory, L, Rimmer, A, Rust, N, Graham, U, Morrison, P, Hunter, S, Whyte, M, McVean, G, Buck, D, Thakker, R
Format:	Journal article
Language:	English
Published:	2013

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