Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule
Aartsma-Rus A., Van Deutekom J.C., Fokkema I.F., Van Ommen G.J., and Den Dunnen J.T. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 34 (2006) 135-144
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
Buratti E., Chivers M., Kralovicova J., et al. Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res 35 (2007) 4250-4263
Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene
Deburgrave N., Daoud F., Llense S., et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 28 (2007) 183-195
RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression
Shapiro M.B., and Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15 (1987) 7155-7174
Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects
Tuffery-Giraud S., Chambert S., Demaille J., and Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 14 (1999) 359-368
Dystrophin point mutation screening using a multiplexed protein truncation test
Whittock N.V., Roberts R.G., Mathew C.G., and Abbs S.J. Dystrophin point mutation screening using a multiplexed protein truncation test. Genet Test 1 (1997) 115-123
Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family
Wilton S.D., Chandler D.C., Kakulas B.A., and Laing N.G. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family. Hum Mutat 3 (1994) 133-140
