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Journal article

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

Abstract:

The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that has an extracellular bilobed venus flytrap domain (VFTD) predicted to contain five calcium (Ca(2+))-binding sites. To elucidate the structure-function relationships of the VFTD, we investigated 294 unrelated probands with familial hypocalciuric hypercalcaemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT) or autosomal dominant hypocalcaemic hypercalciuria (ADHH) for CaSR mutations and performed in vitro funct...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/dds105

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Journal:
Human molecular genetics More from this journal
Volume:
21
Issue:
12
Pages:
2768-2778
Publication date:
2012-06-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Language:
English
Keywords:
Pubs id:
pubs:320291
UUID:
uuid:1af45bc9-6b99-43d4-bb85-fa1a617918bc
Local pid:
pubs:320291
Source identifiers:
320291
Deposit date:
2012-12-19

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