A possible missense mutation detected in the dystrophin gene by double strand conformation analysis (DSCA)
- 31 July 1994
- journal article
- Published by Elsevier in Neuromuscular Disorders
- Vol. 4 (4) , 335-341
- https://doi.org/10.1016/0960-8966(94)90069-8
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- A study on duplications of the dystrophin gene: Evidence of a geographical difference in the distribution of breakpoints by intronHuman Genetics, 1994
- Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patientsHuman Molecular Genetics, 1993
- A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patientNature Genetics, 1993
- A novel nonsense mutation in the human dystrophin geneHuman Mutation, 1993
- Premature chain termination mutation causing Duchenne muscular dystrophyNeurology, 1992
- Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Journal of Medical Genetics, 1992
- Point mutation in the human dystrophin gene: Identification through Western blot analysisGenomics, 1991
- Enormous dystrophin in a patient with Becker muscular dystrophyNeurology, 1990
- Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplificationNucleic Acids Research, 1988
- Estimation of wedge components in curved DNANature, 1987