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Journal article

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.

Abstract:

BACKGROUND: Inactivating mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor with extracellular (ECD), transmembrane (TMD) and intracellular (ICD) domains, cause familial hypocalciuric hypercalcaemia, neonatal severe primary hyperparathyroidism and occasionally primary hyperparathyroidism in adults. OBJECTIVE: To investigate a patient with typical symptomatic primary hyperparathyroidism for CaSR abnormalities. PATIENT AND DESIGN: A 51-year-old woman with primary hyp...

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Publication status:
Published

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
Journal:
Clinical endocrinology More from this journal
Volume:
73
Issue:
6
Pages:
715-722
Publication date:
2010-12-01
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
Language:
English
Keywords:
Pubs id:
pubs:73325
UUID:
uuid:09e270aa-ba07-40e1-ba57-7a3cd18b1665
Local pid:
pubs:73325
Source identifiers:
73325
Deposit date:
2012-12-19

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