20827784

Source:http://linkedlifedata.com/resource/pubmed/id/20827784

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0037047, umls-concept:C0678226, umls-concept:C0752166, umls-concept:C1709059, umls-concept:C1826413, umls-concept:C1826414
pubmed:issue	10
pubmed:dateCreated	2010-9-27
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/101235741
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/BBS10 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/BBS12 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Group II Chaperonins
pubmed:status	MEDLINE
pubmed:month	Oct
pubmed:issn	1552-4833
pubmed:author	pubmed-author:DulferEelcoE, pubmed-author:HoefslootLies HLH, pubmed-author:MomConstantijneC, pubmed-author:TimmerAlbertusA, pubmed-author:van EssenAnthonie JAJ
pubmed:issnType	Electronic
pubmed:volume	152A
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	2666-9
pubmed:meshHeading	pubmed-meshheading:20827784-Bardet-Biedl Syndrome, pubmed-meshheading:20827784-Fatal Outcome, pubmed-meshheading:20827784-Female, pubmed-meshheading:20827784-Genetic Testing, pubmed-meshheading:20827784-Group II Chaperonins, pubmed-meshheading:20827784-Humans, pubmed-meshheading:20827784-Infant, Newborn, pubmed-meshheading:20827784-Magnetic Resonance Imaging, pubmed-meshheading:20827784-Mutation, pubmed-meshheading:20827784-Reference Values, pubmed-meshheading:20827784-Siblings
pubmed:year	2010
pubmed:articleTitle	Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
pubmed:affiliation	Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands. dulfere@medgen.umcg.nl
pubmed:publicationType	Letter, Case Reports