A possible missense mutation detected in the dystrophin gene by double strand conformation analysis (DSCA)

Author:

Saad F.A.,Vita G.,Toffolatti L.,Danieli G.A.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference29 articles.

1. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA Analysis of 194 cases reveals 115 deletions and 13 duplications;Den Dunnen;Am J Hum Genet,1989

2. Dcetection screening of the Ducheene muscular dystrophy locus via multiplex DNA amplification;Chamberlain;Nucleic Acids Res,1989

3. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction;Beggs;J Hum Genet,1990

4. Analysis of quantitavie PCR for diagnosis of deletion and duplication carriers in the dystrophin gene;Abbs;J Med Genet,1992

5. Galvagni F, Saad F, Danieli G A, Miorin M, Vitiello L, Mostacciuolo M L, Angelini C. A study of duplications of the dystrophin gene. Evidence of a geographical difference in the distributions by intron. Hum Genet (in press).

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