Segmental duplications: an 'expanding' role in genomic instability and disease View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2001-10

AUTHORS

B S Emanuel, T H Shaikh

ABSTRACT

The knowledge that specific genetic diseases are caused by recurrent chromosomal aberrations has indicated that genomic instability might be directly related to the structure of the regions involved. The sequencing of the human genome has directed significant attention towards understanding the molecular basis of such recombination 'hot spots'. Segmental duplications have emerged as a significant factor in the aetiology of disorders that are caused by abnormal gene dosage. These observations bring us closer to understanding the mechanisms and consequences of genomic rearrangement. More... »

PAGES

791-800

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/35093500

    DOI

    http://dx.doi.org/10.1038/35093500

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1029953644

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11584295


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