A novel point mutation (G-1 to T) in a 5' splice donor site of intron 13 of the dystrophin gene results in exon skipping and is responsible for Becker muscular dystrophy.

The mutations in one-third of Duchenne and Becker muscular dystrophy patients remain unknown, as they do not involve gross rearrangements of the dystrophin gene. We now report a defect in the splicing of precursor mRNA (pre-mRNA), resulting from a maternally inherited mutation of the dystrophin gene...

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Main Authors: Hagiwara, Y., Nishio, H., Kitoh, Y., Takeshima, Y., Narita, N., Wada, H., Yokoyama, M., Nakamura, H., Matsuo, M.
Formato: Artigo
Idioma:Inglês
Publicado em: 1994
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918065/
https://ncbi.nlm.nih.gov/pubmed/8279470
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