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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2010-11-16
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1365-2265
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pubmed:author |
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pubmed:copyrightInfo |
© 2010 Blackwell Publishing Ltd.
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pubmed:issnType |
Electronic
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pubmed:volume |
73
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
715-22
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pubmed:meshHeading |
pubmed-meshheading:20846291-Adolescent,
pubmed-meshheading:20846291-Adult,
pubmed-meshheading:20846291-Aged,
pubmed-meshheading:20846291-Child,
pubmed-meshheading:20846291-Female,
pubmed-meshheading:20846291-Humans,
pubmed-meshheading:20846291-Hypercalcemia,
pubmed-meshheading:20846291-Hyperparathyroidism, Primary,
pubmed-meshheading:20846291-Male,
pubmed-meshheading:20846291-Middle Aged,
pubmed-meshheading:20846291-Mutation,
pubmed-meshheading:20846291-Mutation, Missense,
pubmed-meshheading:20846291-Pedigree,
pubmed-meshheading:20846291-Receptors, Calcium-Sensing,
pubmed-meshheading:20846291-Sequence Analysis, DNA,
pubmed-meshheading:20846291-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
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pubmed:affiliation |
Academic Endocrine Unit, Nuffield Department of Clinical Medicine, University of Oxford, Oxford, UK.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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