Article
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
Journal of medical genetics - 1 Sept 1993
Nicholson L V, Johnson M A, Bushby K M, Gardner-Medwin D, Curtis A, Ginjaar I B, den Dunnen J T, Welch J L, Butler T J, Bakker E
Abstract excerpt
This report is the second part of a trilogy from a multidisciplinary study which was undertaken to record the relationships between clinical severity and dystrophin gene and protein expression. The aim in part 2 was to correlate the effect of gene deletions on protein expression in individual pat...
Topics
- Adolescent
- Adult
- Aged
- Blotting, Western
- Child
- Child, Preschool
- Cohort Studies
- Dystrophin
- Female
- Frameshift Mutation
- Gene Deletion
- Genetic Linkage