TY  - GEN
AU  - Nesbit,M Andrew
AU  - Hannan,Fadil M
AU  - Howles,Sarah A
AU  - Reed,Anita A C
AU  - Cranston,Treena
AU  - Thakker,Clare E
AU  - Gregory,Lorna
AU  - Rimmer,Andrew J
AU  - Rust,Nigel
AU  - Graham,Una
AU  - Morrison,Patrick J
AU  - Hunter,Steven J
AU  - Whyte,Michael P
AU  - McVean,Gil
AU  - Buck,David
AU  - Thakker,Rajesh V
TI  - Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3
SN  - 1546-1718
PY  - 2013///0222
KW  - Adaptor Protein Complex 2
KW  - chemistry
KW  - Adaptor Protein Complex sigma Subunits
KW  - Adult
KW  - Amino Acid Sequence
KW  - Calcium
KW  - metabolism
KW  - Conserved Sequence
KW  - Female
KW  - Humans
KW  - Hypercalcemia
KW  - genetics
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Protein Conformation
KW  - Receptors, Calcium-Sensing
KW  - Sequence Alignment
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.2492
ER  -