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rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
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pubmed:dateCreated |
2007-8-24
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|
pubmed:abstractText |
Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). Only three heterozygous de novo inactivating mutations of CaSR causing NSHPT have been described. We report the case of a now 11-year-old boy with NSHPT and we characterize a novel inactivating mutation along with the results of some functional analyses.
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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 |
|
|
pubmed:status |
MEDLINE
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|
pubmed:month |
Sep
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pubmed:issn |
0300-0664
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
67
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
385-92
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pubmed:meshHeading |
pubmed-meshheading:17555508-Bone Density,
pubmed-meshheading:17555508-Calcium,
pubmed-meshheading:17555508-Child,
pubmed-meshheading:17555508-Family Health,
pubmed-meshheading:17555508-Female,
pubmed-meshheading:17555508-Femur,
pubmed-meshheading:17555508-HEK293 Cells,
pubmed-meshheading:17555508-Heterozygote,
pubmed-meshheading:17555508-Humans,
pubmed-meshheading:17555508-Hyperparathyroidism,
pubmed-meshheading:17555508-Infant, Newborn,
pubmed-meshheading:17555508-Male,
pubmed-meshheading:17555508-Pedigree,
pubmed-meshheading:17555508-Point Mutation,
pubmed-meshheading:17555508-Receptors, Calcium-Sensing,
pubmed-meshheading:17555508-Severity of Illness Index
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|
pubmed:year |
2007
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|
pubmed:articleTitle |
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
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pubmed:affiliation |
2nd Department of Medicine and Department of Physiology, Semmelweis University, Budapest, Hungary.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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