Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications.

We have studied 34 Becker and 160 Duchenne muscular dystrophy (DMD) patients with the dystrophin cDNA, using conventional blots and FIGE analysis. One hundred twenty-eight mutations (65%) were found, 115 deletions and 13 duplications, of which 106 deletions and 11 duplications could be precisely map...

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Détails bibliographiques
Auteurs principaux: Den Dunnen, J T, Grootscholten, P M, Bakker, E, Blonden, L A, Ginjaar, H B, Wapenaar, M C, van Paassen, H M, van Broeckhoven, C, Pearson, P L, van Ommen, G J
Format: Artigo
Langue:Inglês
Publié: 1989
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683480/
https://ncbi.nlm.nih.gov/pubmed/2573997
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