| pubmed-article:17555508 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0019425 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0249742 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0332281 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C1335671 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C1832615 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C1882417 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
| pubmed-article:17555508 | lifeskim:mentions | umls-concept:C1515568 | lld:lifeskim |
| pubmed-article:17555508 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:17555508 | pubmed:dateCreated | 2007-8-24 | lld:pubmed |
| pubmed-article:17555508 | 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. | lld:pubmed |
| pubmed-article:17555508 | pubmed:language | eng | lld:pubmed |
| pubmed-article:17555508 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17555508 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:17555508 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17555508 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17555508 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:17555508 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:17555508 | pubmed:month | Sep | lld:pubmed |
| pubmed-article:17555508 | pubmed:issn | 0300-0664 | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:CzirjákGáborG | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:EnyediPéterP | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:TóthMiklósM | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:PatócsAttilaA | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:CsákváryViole... | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:GergicsPéterP | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:EnyediBalázsB | lld:pubmed |
| pubmed-article:17555508 | pubmed:author | pubmed-author:TõkeJuditJ | lld:pubmed |
| pubmed-article:17555508 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:17555508 | pubmed:volume | 67 | lld:pubmed |
| pubmed-article:17555508 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:17555508 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:17555508 | pubmed:pagination | 385-92 | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:meshHeading | pubmed-meshheading:17555508... | lld:pubmed |
| pubmed-article:17555508 | pubmed:year | 2007 | lld:pubmed |
| pubmed-article:17555508 | 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. | lld:pubmed |
| pubmed-article:17555508 | pubmed:affiliation | 2nd Department of Medicine and Department of Physiology, Semmelweis University, Budapest, Hungary. | lld:pubmed |
| pubmed-article:17555508 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:17555508 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:17555508 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:846 | entrezgene:pubmed | pubmed-article:17555508 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:17555508 | lld:entrezgene |
| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:17555508 | lld:pubmed |
