C Nobile, F Galvagni, J Marchi, R Roberts, L Vitiello - Genomics, 1995 - Elsevier
The genomic organization of most of the human dystrophin gene has not been defined at single-exon level, owing to its enormous size (2300 kb). By taking advantage of a YAC …
C Nobile, J Marchi - Mammalian Genome, 1994 - Springer
The enormous size of the human dystrophin gene (2300 kb) has so far hindered the analysis of its organization and the characterization at the genomic level of the deletion and …
OV Iarovaia, A Bystritskiy, D Ravcheev… - Nucleic acids …, 2004 - academic.oup.com
The organization of the human dystrophin gene into loop domains has been studied using two different experimental approaches: excision of DNA loops mediated by nuclear matrix …
RG Roberts, AJ Coffey, M Bobrow, DR Bentley - Genomics, 1993 - Elsevier
Application of a novel vectorette PCR approach to defining intron-exon boundaries has permitted completion of analysis of the exon structure of the largest and most complex …
C Nobile, J Marchi, V Nigro, RG Roberts, GA Danieli - Genomics, 1997 - Elsevier
Analysis of the exon–intron organization of the human dystrophin gene has been hampered by its enormous size. By using a YAC-based exon mapping approach and long PCR, we …
Large intragenic deletions within the DMD locus account for about 60% of Duchenne and Becker muscular dystrophy patients. Two deletion hot-spots have been described in the …
MW Kilimann, A Pizzuti, M Grompe, CT Caskey - Human genetics, 1992 - Springer
About one third of Duchenne muscular dystrophy (DMD) patients have no gross DNA rearrangements in the dystrophin gene detectable by Southern blot analysis or multiplex …
L Toffolatti, B Cardazzo, C Nobile, GA Danieli… - Genomics, 2002 - Elsevier
The region of the dystrophin gene containing introns 45–50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The …
JC McNaughton, DJ Cockburn, G Hughes, WA Jones… - Gene, 1998 - Elsevier
Although large deletions comprise 65% of the mutations that underlie most cases of Duchenne and Becker muscular dystrophies, the DNA sequence characteristics of the …