Linked Life Data

8965680

Source:http://linkedlifedata.com/resource/pubmed/id/8965680

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1996-12-10
pubmed:abstractText
Three distinct disorders of calcium homeostasis can result from mutations in the gene encoding the human calcium-sensing receptors (CASR; MIM 145980). One form of autosomal dominant familial hypocalciuric hypercalcemia results from the heterozygous state of inactivating mutations in the CASR gene. Neonatal severe hyperparathyroidism results from homozygosity for inactivating mutations in the CASR gene. The severe phenotype demonstrates the fundamental role the calcium-sensing receptor plays in parathyroid function. Activating mutations can lead to autosomal dominant hypocalcemia. The role of the calcium-sensing receptor in the kidney, brain, and other organs in health and disease awaits clarification.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0025-7974
pubmed:author
pubmed:issnType
Print
pubmed:volume
75
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
115-23
pubmed:dateRevised
2005-11-16
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Three inherited disorders of calcium sensing.
pubmed:affiliation
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA.
pubmed:publicationType
Journal Article, Review