Chromosome 21 and down syndrome: from genomics to pathophysiology
SE Antonarakis, R Lyle, ET Dermitzakis… - Nature reviews …, 2004 - nature.com
Nature reviews genetics, 2004•nature.com
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.
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.
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.
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