Linked Life Data

1822342

Source:http://linkedlifedata.com/resource/pubmed/id/1822342

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-9-2
pubmed:abstractText
Using a mouse genomic fragment containing the brain-specific promoter region of the dystrophin gene, we have located the brain promoter 75-300 kb proximal of the muscle promoter. Within our DMD-families we detected a patient who lacks both the brain-specific and muscle-specific promoter sequences. The normal intellectual capabilities of the patient argue against an indispensable role of the brain-specific first exon in mental functioning. The possibility exists that a NH2-terminally truncated dystrophin has taken over the function of the normal dystrophins in brain and/or muscle.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0960-8966
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
327-31
pubmed:dateRevised
2008-11-21
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Mapping of dystrophin brain promoter: a deletion of this region is compatible with normal intellect.
pubmed:affiliation
Department of Human Genetics, Leiden University, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't