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Mutations in human genetic disease

Antonarakis, Stylianos E and Cooper, David N. 2006. Mutations in human genetic disease. eLS, Wiley-Blackwell, (10.1038/npg.els.0005471)

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Abstract

Mutations in human genetic disease include single base-pair substitutions in coding, regulatory and splicing-relevant regions of human genes. Other kinds of pathogenic mutations are micro-deletions, micro-insertions, duplications, repeat expansions, combined micro-insertions/deflections (‘indels’), inversions, gross deletions and insertions, and complex rearrangements.

Item Type: Book Section
Date Type: Published Online
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords: mutation; human disease; mutation database; mutation mechanism; mutation consequences; genotype–phenotype correlation
Publisher: Wiley-Blackwell
Last Modified: 04 Jun 2017 09:34
URI: http://orca.cf.ac.uk/id/eprint/97076

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