Article
Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy.
Acta neurobiologiae experimentalis - 1 Jan 1993
Hausmanowa-Petrusewicz I, Zaremba J, Fidziańska A, Zimowski J, Bisko M, Badurska B, Fidziańska E, Lusakowska A, Borkowska J
Abstract excerpt
DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of...
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