Linked Life Data

14638972

Source:http://linkedlifedata.com/resource/pubmed/id/14638972

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2003-11-25
pubmed:abstractText
The authors report the molecular findings in a patient with McArdle disease who harbored a silent polymorphism (K608K) in the myophosphorylase gene. cDNA studies demonstrated that this polymorphism leads to a severe mosaic alteration in mRNA splicing, including exon skipping, activation of cryptic splice-sites, and exon-intron reorganizations. These findings suggest that, in patients with McArdle disease in whom no pathogenic mutation has been found, any a priori silent polymorphism should be re-evaluated as a putative splicing mutation.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
25
pubmed:volume
61
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1432-4
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.
pubmed:affiliation
Centre d'Investigacions en Bioquímica y Biología Molecular, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't