15024694

Source:http://linkedlifedata.com/resource/pubmed/id/15024694

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015576, umls-concept:C0017337, umls-concept:C0025958, umls-concept:C0026882, umls-concept:C0039082, umls-concept:C0205314, umls-concept:C0242210, umls-concept:C0384782, umls-concept:C0679622, umls-concept:C1136249, umls-concept:C1185740, umls-concept:C1418859, umls-concept:C1524003
pubmed:issue	4
pubmed:dateCreated	2004-3-16
pubmed:databankReference	http://linkedlifedata.com/resource/pubmed/xref/OMIM/300463, http://linkedlifedata.com/resource/pubmed/xref/OMIM/309470, http://linkedlifedata.com/resource/pubmed/xref/OMIM/309500, http://linkedlifedata.com/resource/pubmed/xref/OMIM/309550, http://linkedlifedata.com/resource/pubmed/xref/OMIM/309600, http://linkedlifedata.com/resource/pubmed/xref/RefSeq/NM_005710
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/HD26208, http://linkedlifedata.com/resource/pubmed/grant/MH57840
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-10332029, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-11449485, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-12900574, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-13763598, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-13981686, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-14556243, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-14634649, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-3437266, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-4132492, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-4134321, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-4194960, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-453204, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-6938131, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-7188916, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-7328617, http://linkedlifedata.com/resource/pubmed/commentcorrection/15024694-9545405
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0370475
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nuclear Proteins, http://linkedlifedata.com/resource/pubmed/chemical/PQBP1 protein, human
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	0002-9297
pubmed:author	pubmed-author:AbidiFatimaF, pubmed-author:Frank KooyRR, pubmed-author:KatzavShulamitS, pubmed-author:LenskiClausC, pubmed-author:LubsHerbert AHA, pubmed-author:MeindlAlfonsA, pubmed-author:PlatzerMatthiasM, pubmed-author:RamserJulianeJ, pubmed-author:SchwartzCharles ECE, pubmed-author:StevensonRoger ERE
pubmed:issnType	Print
pubmed:volume	74
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	777-80
pubmed:dateRevised	2011-11-17
pubmed:meshHeading	pubmed-meshheading:15024694-Abnormalities, Multiple, pubmed-meshheading:15024694-Amino Acid Sequence, pubmed-meshheading:15024694-Base Sequence, pubmed-meshheading:15024694-Carrier Proteins, pubmed-meshheading:15024694-Female, pubmed-meshheading:15024694-Genetic Diseases, X-Linked, pubmed-meshheading:15024694-Humans, pubmed-meshheading:15024694-Intellectual Disability, pubmed-meshheading:15024694-Male, pubmed-meshheading:15024694-Microcephaly, pubmed-meshheading:15024694-Molecular Sequence Data, pubmed-meshheading:15024694-Mutation, pubmed-meshheading:15024694-Nuclear Proteins, pubmed-meshheading:15024694-Pedigree, pubmed-meshheading:15024694-Syndrome
pubmed:year	2004
pubmed:articleTitle	Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
pubmed:publicationType	Letter, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't