rdf:type |
|
lifeskim:mentions |
umls-concept:C0015576,
umls-concept:C0024554,
umls-concept:C0025362,
umls-concept:C0030705,
umls-concept:C0035700,
umls-concept:C0205314,
umls-concept:C0376315,
umls-concept:C0679622,
umls-concept:C0680022,
umls-concept:C0699789,
umls-concept:C0745777,
umls-concept:C1417902,
umls-concept:C1521761
|
pubmed:issue |
18
|
pubmed:dateCreated |
2001-9-21
|
pubmed:abstractText |
Although X-linked mental retardation (XLMR) affects 2%-3% of the human population, little is known about the underlying molecular mechanisms. Recent interest in this topic led to the identification of several genes for which mutations result in the disturbance of cognitive development.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Sep
|
pubmed:issn |
0960-9822
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
18
|
pubmed:volume |
11
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1381-91
|
pubmed:dateRevised |
2011-11-17
|
pubmed:meshHeading |
pubmed-meshheading:11566096-Active Transport, Cell Nucleus,
pubmed-meshheading:11566096-Amino Acid Sequence,
pubmed-meshheading:11566096-Animals,
pubmed-meshheading:11566096-Brain,
pubmed-meshheading:11566096-Chromosome Inversion,
pubmed-meshheading:11566096-Cloning, Molecular,
pubmed-meshheading:11566096-Cytoplasm,
pubmed-meshheading:11566096-Gene Deletion,
pubmed-meshheading:11566096-Gene Expression,
pubmed-meshheading:11566096-Hippocampus,
pubmed-meshheading:11566096-Humans,
pubmed-meshheading:11566096-Intellectual Disability,
pubmed-meshheading:11566096-Male,
pubmed-meshheading:11566096-Mice,
pubmed-meshheading:11566096-Middle Aged,
pubmed-meshheading:11566096-Molecular Sequence Data,
pubmed-meshheading:11566096-Multigene Family,
pubmed-meshheading:11566096-Nuclear Proteins,
pubmed-meshheading:11566096-Nucleocytoplasmic Transport Proteins,
pubmed-meshheading:11566096-RNA,
pubmed-meshheading:11566096-RNA-Binding Proteins,
pubmed-meshheading:11566096-Sequence Homology, Amino Acid,
pubmed-meshheading:11566096-Syndrome,
pubmed-meshheading:11566096-X Chromosome
|
pubmed:year |
2001
|
pubmed:articleTitle |
NXF5, a novel member of the nuclear RNA export factor family, is lost in a male patient with a syndromic form of mental retardation.
|
pubmed:affiliation |
Human Genome Laboratory, Flanders Interuniversity Institute for Biotechnology, University of Leuven, B-3000 Leuven, Belgium.
|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|