Nalaganje...

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

The adaptor protein-2 sigma subunit (AP2σ2) is pivotal for clathrin-mediated endocytosis of plasma membrane constituents such as the calcium-sensing receptor (CaSR). Mutations of the AP2σ2 Arg15 residue result in familial hypocalciuric hypercalcaemia type 3 (FHH3), a disorder of extracellular calciu...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: Hannan, Fadil M., Howles, Sarah A., Rogers, Angela, Cranston, Treena, Gorvin, Caroline M., Babinsky, Valerie N., Reed, Anita A., Thakker, Clare E., Bockenhauer, Detlef, Brown, Rosalind S., Connell, John M., Cook, Jacqueline, Darzy, Ken, Ehtisham, Sarah, Graham, Una, Hulse, Tony, Hunter, Steven J., Izatt, Louise, Kumar, Dhavendra, McKenna, Malachi J., McKnight, John A., Morrison, Patrick J., Mughal, M. Zulf, O'Halloran, Domhnall, Pearce, Simon H., Porteous, Mary E., Rahman, Mushtaqur, Richardson, Tristan, Robinson, Robert, Scheers, Isabelle, Siddique, Haroon, van't Hoff, William G., Wang, Timothy, Whyte, Michael P., Nesbit, M. Andrew, Thakker, Rajesh V.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2015
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4550820/
https://ncbi.nlm.nih.gov/pubmed/26082470
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv226
Oznake: Označite
Brez oznak, prvi označite!