Nesbit, M Andrew
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. [electronic resource]
- Nature genetics Jan 2013
- 93-7 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2492 doi
Adaptor Protein Complex 2--chemistry
Adaptor Protein Complex sigma Subunits--chemistry
Adult
Amino Acid Sequence
Calcium--metabolism
Conserved Sequence
Female
Humans
Hypercalcemia--genetics
Male
Models, Molecular
Molecular Sequence Data
Mutation
Protein Conformation
Receptors, Calcium-Sensing--genetics
Sequence Alignment