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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2007-11-8
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pubmed:abstractText |
The autosomal dominantly inherited condition familial hypocalciuric hypercalcemia (FHH) is characterized by elevated plasma calcium levels, relative or absolute hypocalciuria, and normal to moderately elevated plasma PTH. The condition is difficult to distinguish clinically from primary hyperparathyroidism and is caused by inactivating mutations in the calcium sensing receptor (CASR) gene.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0021-972X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
92
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4373-9
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:17698911-Calcium,
pubmed-meshheading:17698911-Codon,
pubmed-meshheading:17698911-Computational Biology,
pubmed-meshheading:17698911-DNA,
pubmed-meshheading:17698911-Denmark,
pubmed-meshheading:17698911-Gene Frequency,
pubmed-meshheading:17698911-Genetic Variation,
pubmed-meshheading:17698911-Humans,
pubmed-meshheading:17698911-Hypocalcemia,
pubmed-meshheading:17698911-Linear Models,
pubmed-meshheading:17698911-Molecular Biology,
pubmed-meshheading:17698911-Mutation,
pubmed-meshheading:17698911-Parathyroid Hormone,
pubmed-meshheading:17698911-Phenotype,
pubmed-meshheading:17698911-Receptors, Calcium-Sensing
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pubmed:year |
2007
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pubmed:articleTitle |
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
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pubmed:affiliation |
Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus Sygehus, Tage Hansens gade 2, DK-8000 Aarhus C, Denmark. sci08phn@as.aaa.dk
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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