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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-7-12
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pubmed:abstractText |
Genetic disorders of calcium metabolism arise in a familial or sporadic setting. The calcium-sensing receptor (CASR) plays a key role in maintaining calcium homeostasis and study of the CASR gene can be clinically useful in determining etiology and appropriate therapeutic approaches. We report two cases of novel CASR gene mutations that illustrate the varying clinical presentations and discuss these in terms of the current understanding of CASR function.
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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 |
Aug
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pubmed:issn |
1479-683X
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pubmed:author |
pubmed-author:AuriemmaRenata SRS,
pubmed-author:BeckersAlbertA,
pubmed-author:BeteaDanielaD,
pubmed-author:BurlacuMaria CMC,
pubmed-author:DalyAdrian FAF,
pubmed-author:HamoirEtienneE,
pubmed-author:LivadariuElenaE,
pubmed-author:MawejaSylvieS,
pubmed-author:RydlewskiCatherineC,
pubmed-author:ThonnardAnne SAS,
pubmed-author:VandevaSilviaS,
pubmed-author:VassartGilbertG
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pubmed:issnType |
Electronic
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pubmed:volume |
165
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
353-8
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pubmed:dateRevised |
2011-10-30
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pubmed:meshHeading |
pubmed-meshheading:21566074-Adolescent,
pubmed-meshheading:21566074-Calcium,
pubmed-meshheading:21566074-DNA Mutational Analysis,
pubmed-meshheading:21566074-Female,
pubmed-meshheading:21566074-Homeostasis,
pubmed-meshheading:21566074-Humans,
pubmed-meshheading:21566074-Hypercalcemia,
pubmed-meshheading:21566074-Hypocalcemia,
pubmed-meshheading:21566074-Male,
pubmed-meshheading:21566074-Middle Aged,
pubmed-meshheading:21566074-Mutation,
pubmed-meshheading:21566074-Pedigree,
pubmed-meshheading:21566074-Receptors, Calcium-Sensing,
pubmed-meshheading:21566074-Siblings
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pubmed:year |
2011
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pubmed:articleTitle |
Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.
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pubmed:affiliation |
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, 4000 Liège, Belgium.
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pubmed:publicationType |
Journal Article,
Case Reports
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