Linked Life Data

17880784

Source:http://linkedlifedata.com/resource/pubmed/id/17880784

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2007-9-20
pubmed:abstractText
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by dystrophin gene mutations; 55%-65% of these pathogenic mutations are large deletion and duplication mutations that can be detected by multiplexed polymerase chain reaction. However, finding the remaining micro-mutations (substitutions, deletions or insertions of one or several nucleotides) cannot be achieved in this way. The aim of the present study was to detect mutations of the dystrophin gene in individuals with Duchenne muscular dystrophy (DMD) by denaturing high-performance liquid chromatography (DHPLC) and to establish a rapid and sensitive screening platform for micro-mutations leading to DMD.
pubmed:language
chi
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0578-1310
pubmed:author
pubmed:issnType
Print
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
413-6
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
[Detection of new mutations in the dystrophin gene by denaturing high-performance liquid chromatography].
pubmed:affiliation
The Research Center for Human Genomics and MOH Key Laboratory of Cell Biology, China Medical University, Shenyang 110001, China.
pubmed:publicationType
Journal Article, English Abstract