A
A. Speer
Researcher at John Radcliffe Hospital
Publications - 27
Citations - 890
A. Speer is an academic researcher from John Radcliffe Hospital. The author has contributed to research in topics: Duchenne muscular dystrophy & Exon. The author has an hindex of 13, co-authored 27 publications receiving 879 citations.
Papers
More filters
Journal ArticleDOI
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
TL;DR: Using a complementary DNA subclone of the DMD gene, screened 66 DMD and BMD patients who had not previously shown deletions with the probes, and is able to detect deletions directly in 40% of families requiring antenatal diagnosis or carrier detection.
Journal ArticleDOI
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies.
TL;DR: Fetal muscle cDNA clones covering at least 11.4 kb of the Duchenne muscular dystrophy (DMD) gene sequence were used to identify a deletion-prone region in DNA from DMD and Becker muscular Dystrophy patients.
Journal ArticleDOI
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
TL;DR: The results demonstrate the applicability of PFGE for analysis of Xp21, and should facilitate the mapping of other translocations and deletions in this region, some of which lead to glycerol kinase deficiency and adrenal hypoplasia as well as DMD.
Journal ArticleDOI
Sequences of junction fragments in the deletion-prone region of the dystrophin gene.
Donald R. Love,England S,A. Speer,Rosalind F. Marsden,J.F. Bloomfield,A. Roche,G.S. Cross,R.C. Mountford,Terry J. Smith,Kay E. Davies +9 more
TL;DR: The first sequencing of deletion junctions in the dystrophin gene is reported, showing the breakpoints to lie in regions of introns in which stretches of dA-dT are seen.
Journal ArticleDOI
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome.
TL;DR: It is concluded from these studies that the severity of the clinical phenotype cannot be explained on the basis of the size of the deletion, and this in the context of candidate gene sequences.