Article
Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.
Human genetics - 1 Jul 1991
Covone A E, Lerone M, Romeo G
Abstract excerpt
The molecular analysis of 127 DMD/BMD patients showed that 73 of them (57%) had deletions in the dystrophin gene. Two different methods were used in this study: (a) hybridization of HindIII-digested genomic DNA with nine cDNA probes corresponding to the entire 14kb cDNA of the DMD gene; and (b) simultaneous amplification of nine exons of the DMD gene (multiplex DNA amplification) by the polymerase chain reaction...
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