18816383

Source:http://linkedlifedata.com/resource/pubmed/id/18816383

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0017337, umls-concept:C0019425, umls-concept:C0020438, umls-concept:C0026882, umls-concept:C0027709, umls-concept:C0151723, umls-concept:C0205198, umls-concept:C0241888, umls-concept:C1413465
pubmed:dateCreated	2008-10-7
pubmed:abstractText	Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive disorder of renal calcium and magnesium wasting frequently complicated by progressive chronic renal failure in childhood or adolescence.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-10390358, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-10878661, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-11062458, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-11102542, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-11518780, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-14586675, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-14628289, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-15001450, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-15085183, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-15856319, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-16804318, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-17033971, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-17123117, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-17671655, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-18003771, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-2409564, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-7637271, http://linkedlifedata.com/resource/pubmed/commentcorrection/18816383-8859258
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/100967793
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/claudin 16
pubmed:status	MEDLINE
pubmed:issn	1471-2369
pubmed:author	pubmed-author:HampsonGeetaG, pubmed-author:KonradMartin AMA, pubmed-author:ScobleJohnJ
pubmed:issnType	Electronic
pubmed:volume	9
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	12
pubmed:dateRevised	2009-11-18
pubmed:meshHeading	pubmed-meshheading:18816383-Adult, pubmed-meshheading:18816383-Extracellular Space, pubmed-meshheading:18816383-Female, pubmed-meshheading:18816383-Gitelman Syndrome, pubmed-meshheading:18816383-Heterozygote Detection, pubmed-meshheading:18816383-Humans, pubmed-meshheading:18816383-Hypercalciuria, pubmed-meshheading:18816383-Kidney Transplantation, pubmed-meshheading:18816383-Male, pubmed-meshheading:18816383-Membrane Proteins, pubmed-meshheading:18816383-Mutation, pubmed-meshheading:18816383-Nephrocalcinosis, pubmed-meshheading:18816383-RNA Splicing
pubmed:year	2008
pubmed:articleTitle	Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene.
pubmed:affiliation	Department of Chemical Pathology, St Thomas Hospital, London, UK. geeta.hampson@kcl.ac.uk
pubmed:publicationType	Journal Article, Case Reports