Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts

@article{Donner2004CompleteGS,
  title={Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts},
  author={K. Donner and Maria Sandbacka and Vilma-Lotta Lehtokari and Carina Wallgren-Pettersson and Katarina Pelin},
  journal={European Journal of Human Genetics},
  year={2004},
  volume={12},
  pages={744-751}
}
The giant nebulin protein is a fundamental structural component of the thin filaments of the striated muscle sarcomere. Nebulin binds to actin and the size of nebulin correlates with actin filament length, suggesting that nebulin may determine the length of the thin filaments during myofibrillogenesis. We have previously described the genomic organization of the 3′ end of the nebulin gene (NEB), and identified 18 different NEB mutations in patients with autosomal recessive nemaline myopathy… CONTINUE READING
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