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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
15
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pubmed:dateCreated |
1996-10-22
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pubmed:databankReference |
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pubmed:abstractText |
The calcium-sensing receptor regulates the secretion of parathyroid hormone in response to changes in extracellular calcium concentrations, and mutations that result in a loss of function of the receptor are associated with familial hypocalciuric hypercalcemia. Mutations involving a gain of function have been associated with hypocalcemia in two kindreds. We examined the possibility that the latter type of mutation may result in a phenotype of familial hypocalcemia with hypercalciuria.
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pubmed:grant |
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pubmed:commentsCorrections |
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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 |
Oct
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pubmed:issn |
0028-4793
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pubmed:author |
pubmed-author:BanHH,
pubmed-author:BrownE MEM,
pubmed-author:CoulthardM GMG,
pubmed-author:DaviesMM,
pubmed-author:Kendall-TaylorPP,
pubmed-author:KiforOO,
pubmed-author:Lewis-BarnedNN,
pubmed-author:McCredieDD,
pubmed-author:PearceS HSH,
pubmed-author:PowellHH,
pubmed-author:ThakkerR VRV,
pubmed-author:WilliamsonCC
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pubmed:issnType |
Print
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pubmed:day |
10
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pubmed:volume |
335
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1115-22
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:8813042-Adolescent,
pubmed-meshheading:8813042-Adult,
pubmed-meshheading:8813042-Aged,
pubmed-meshheading:8813042-Amino Acid Sequence,
pubmed-meshheading:8813042-Base Sequence,
pubmed-meshheading:8813042-Calcium,
pubmed-meshheading:8813042-Child,
pubmed-meshheading:8813042-Child, Preschool,
pubmed-meshheading:8813042-Diagnosis, Differential,
pubmed-meshheading:8813042-Female,
pubmed-meshheading:8813042-Humans,
pubmed-meshheading:8813042-Hypocalcemia,
pubmed-meshheading:8813042-Hypoparathyroidism,
pubmed-meshheading:8813042-Male,
pubmed-meshheading:8813042-Middle Aged,
pubmed-meshheading:8813042-Molecular Sequence Data,
pubmed-meshheading:8813042-Parathyroid Hormone,
pubmed-meshheading:8813042-Pedigree,
pubmed-meshheading:8813042-Phenotype,
pubmed-meshheading:8813042-Point Mutation,
pubmed-meshheading:8813042-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8813042-Receptors, Calcium-Sensing,
pubmed-meshheading:8813042-Receptors, Cell Surface,
pubmed-meshheading:8813042-Syndrome
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pubmed:year |
1996
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pubmed:articleTitle |
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
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pubmed:affiliation |
Medical Research Council Molecular Endocrinology Group, Royal Postgraduate Medical School, London, United Kingdom.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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