Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
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
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1468-6244
pubmed:author
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