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

Key Points Segmental duplications are a class of repetitive DNA element in the human genome. Segmental duplications have various sizes and organizational configurations. The different copies of a segmental duplication can share 96–99% nucleotide sequence identity with each other. Segmental duplicati...

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Veröffentlicht in:	Nature reviews. Genetics 2001-10, Vol.2 (10), p.791-800
Hauptverfasser:	Emanuel, Beverly S., Shaikh, Tamim H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Agriculture Angelman syndrome Angelman Syndrome - genetics Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Cancer Research Charcot-Marie-Tooth Disease - genetics Chromosome Aberrations Chromosomes Chromosomes, Human - genetics Chromosomes, Human - ultrastructure Disease Etiology Gene Deletion Gene Dosage Gene Duplication Gene Function Genes Genetic Diseases, Inborn - genetics Genetics Genomes Hemophilia Hereditary Sensory and Motor Neuropathy - genetics Human Genetics Humans Prader-Willi Syndrome - genetics Recombination, Genetic Repetitive Sequences, Nucleic Acid review-article Telomerase Translocation, Genetic velocardiofacial syndrome Williams-Beuren syndrome
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