Compositional mapping of the human dystrophin-encoding gene

T Bettecken, B Aissani, CR Müller, G Bernardi - Gene, 1992 - Elsevier
The genomes of warm-blooded vertebrates are mosaics of long DNA segments (> 300 kb,
on the average), the isochores, homogeneous in GC levels, which belong to a small number …

Genomic organization of the human dystrophin gene across the major deletion hot spot and the 3′ region

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 …

A refined restriction map of YAC clones spanning the entire human dystrophin gene

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 …

Visualization of individual DNA loops and a map of loop domains in the human dystrophin gene

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 …

Exon structure of the human dystrophin gene

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 …

Exon–intron organization of the human dystrophin gene

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 …

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

M Sironi, U Pozzoli, R Cagliani, R Giorda, GP Comi… - Human genetics, 2003 - Springer
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 …

Point mutations and polymorphisms in the human dystrophin gene identified in genomic DNA sequences amplified by multiplex PCR

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 …

Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene

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 …

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin …

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 …