When a mid-intronic variation of DMD gene creates an ESE site
Author:
Funder
AP-HP
Inserm
Association Francaise Contre Les Myopathies
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference30 articles.
1. Dystrophin: the protein product of the Duchenne muscular dystrophy locus;Hoffman;Cell,1987
2. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne’s or Becker’s muscular dystrophy;Hoffman;N Engl J Med,1988
3. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface;Bonilla;Cell,1988
4. Function and genetics of dystrophin and dystrophin-related proteins in muscle;Blake;Physiol Rev,2002
5. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion;Koenig;Am J Hum Genet,1989
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