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Scientific article
English

Chromosome 21 and down syndrome: from genomics to pathophysiology

Published inNature reviews. Genetics, vol. 5, no. 10, p. 725-738
Publication date2004
Abstract

The sequence of chromosome 21 was a turning point for the understanding of Down syndrome. Comparative genomics is beginning to identify the functional components of the chromosome and that in turn will set the stage for the functional characterization of the sequences. Animal models combined with genome-wide analytical methods have proved indispensable for unravelling the mysteries of gene dosage imbalance.

Keywords
  • Animals
  • Chromosome Mapping
  • Chromosomes, Human, Pair 21/ genetics
  • Disease Models, Animal
  • Down Syndrome/genetics/ physiopathology
  • Gene Expression
  • Genetic Variation
  • Humans
  • Mice
  • Phenotype
  • Trisomy/ genetics
Citation (ISO format)
ANTONARAKIS, Stylianos et al. Chromosome 21 and down syndrome: from genomics to pathophysiology. In: Nature reviews. Genetics, 2004, vol. 5, n° 10, p. 725–738. doi: 10.1038/nrg1448
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ISSN of the journal1471-0056
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