Linked Life Data

18353051

Source:http://linkedlifedata.com/resource/pubmed/id/18353051

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2008-3-20
pubmed:abstractText
Deletions of single or multiple exonic regions within the dystrophin gene can be detected using current molecular methods in approximately 65% of the patients with X-linked recessive neuromuscular disorder, Duchenne/Becker muscular dystrophy (DMD/BMD). Population-based variations in frequency and distribution of dystrophin gene deletions have been reported in DMD/BMD patients. In the present study, the first in the Pakistani population, frequency and distribution of deletions of 18 exons clustered in two hot spots within the dystrophin gene in 211 unrelated DMD patients were analyzed.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1442-200X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
50
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
162-6
pubmed:meshHeading
pubmed:year
2008
pubmed:articleTitle
Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients.
pubmed:affiliation
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't