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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...
Shranjeno v:
izdano v: | Hum Mol Genet |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Jezik: | Inglês |
Izdano: |
Oxford University Press
2015
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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 |
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