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Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2σ) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling.

Authors :
Gorvin, Caroline M.
Metpally, Raghu
Stokes, Victoria J.
Hannan, Fadil M.
Krishnamurthy, Sarath B.
Overton, John D.
Reid, Jeffrey G.
Breitwieser, Gerda E.
Thakker, Rajesh V.
Source :
Human Molecular Genetics; Mar2018, Vol. 27 Issue 5, p901-911, 11p
Publication Year :
2018

Details

Language :
English
ISSN :
09646906
Volume :
27
Issue :
5
Database :
Complementary Index
Journal :
Human Molecular Genetics
Publication Type :
Academic Journal
Accession number :
128194151
Full Text :
https://doi.org/10.1093/hmg/ddy010