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16740914
Source:
http://linkedlifedata.com/resource/pubmed/id/16740914
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Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0599155
,
umls-concept:C0795958
,
umls-concept:C1274040
,
umls-concept:C1418859
,
umls-concept:C1514562
,
umls-concept:C1880389
,
umls-concept:C1883204
,
umls-concept:C1883221
pubmed:issue
6
pubmed:dateCreated
2006-6-2
pubmed:abstractText
Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/HD 26202
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-10198427
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-10493832
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-12089445
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-12900574
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-14508504
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-14634649
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-15024694
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-15355434
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-6711604
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/16740914-7943045
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/2985087R
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
Jun
pubmed:issn
1468-6244
pubmed:author
pubmed-author:AbidiF EFE
,
pubmed-author:EcheverriRR
,
pubmed-author:HollowayLL
,
pubmed-author:LubsHH
,
pubmed-author:MeindlAA
,
pubmed-author:SchwartzC ECE
,
pubmed-author:StevensonR ERE
pubmed:issnType
Electronic
pubmed:volume
43
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
e30
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed-meshheading:16740914-Adolescent
,
pubmed-meshheading:16740914-Adult
,
pubmed-meshheading:16740914-Amino Acid Sequence
,
pubmed-meshheading:16740914-Carrier Proteins
,
pubmed-meshheading:16740914-Conserved Sequence
,
pubmed-meshheading:16740914-DNA Mutational Analysis
,
pubmed-meshheading:16740914-Heart Septal Defects, Atrial
,
pubmed-meshheading:16740914-Humans
,
pubmed-meshheading:16740914-Male
,
pubmed-meshheading:16740914-Mental Retardation, X-Linked
,
pubmed-meshheading:16740914-Microcephaly
,
pubmed-meshheading:16740914-Molecular Sequence Data
,
pubmed-meshheading:16740914-Mutation, Missense
,
pubmed-meshheading:16740914-Nuclear Proteins
,
pubmed-meshheading:16740914-Pedigree
,
pubmed-meshheading:16740914-Protein Structure, Tertiary
,
pubmed-meshheading:16740914-Sequence Alignment
,
pubmed-meshheading:16740914-Syndrome
pubmed:year
2006
pubmed:articleTitle
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene.
pubmed:publicationType
Letter
,
Case Reports
,
Research Support, N.I.H., Extramural