A novel splice site mutation in a Becker muscular dystrophy patient
A novel splice site mutation in a Becker muscular dystrophy patient
About this item
Full title
Author / Creator
Bartolo, C , Papp, A C , Snyder, P J , Sedra, M S , Burghes, A H , Hall, C D , Mendell, J R and Prior, T W
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
A Becker muscular dystrophy patient was found to have a single base substitution at the 5' end of intron 54. This single base substitution disrupts the invariant GT dinucleotide within the 5' donor splice site and was shown to cause an out of frame deletion of exon 54 during mRNA processing. This is predicted to produce a truncated dystrophin prote...
Alternative Titles
Full title
A novel splice site mutation in a Becker muscular dystrophy patient
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1050583
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1050583
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.33.4.324
