Key result
A triple DNA analysis with EcoRI, EcoRI/BlnI, and XapI unequivocally allows characterization of each of the four alleles in the diagnosis of facioscapulohumeral muscular dystrophy.
Why the study?
Does triple DNA analysis with EcoRI, EcoRI/BlnI, and XapI allow unequivocal characterization of alleles in the diagnosis of facioscapulohumeral muscular dystrophy?
Population
DNA samples for the diagnosis of facioscapulohumeral muscular dystrophy
Design
Other
Authors
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May improve FSHD genetic diagnosis; leaves open prospective validation before routine adoption.
Does triple DNA analysis with EcoRI, EcoRI/BlnI, and XapI allow unequivocal characterization of alleles in the diagnosis of facioscapulohumeral muscular dystrophy?
Triple DNA analysis using XapI alongside EcoRI and BlnI optimizes the genetic diagnosis of facioscapulohumeral muscular dystrophy by allowing unequivocal allele characterization.
Lemmers et al. (2001) studied Facioscapulohumeral muscular dystrophy. Triple DNA analysis with EcoRI, EcoRI/BlnI, and XapI was evaluated on Characterization of each of the four alleles. A triple DNA analysis with EcoRI, EcoRI/BlnI, and XapI unequivocally allows characterization of each of the four alleles in the diagnosis of facioscapulohumeral muscular dystrophy.
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