Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. [electronic resource]
Producer: 20130222Description: 93-7 p. digitalISSN:- 1546-1718
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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