Antonarakis, Stylianos E and Cooper, David N. ORCID: https://orcid.org/0000-0002-8943-8484 2006. Mutations in human genetic disease. eLS, Wiley-Blackwell, (10.1038/npg.els.0005471) |
Official URL: http://dx.doi.org/10.1038/npg.els.0005471
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 |
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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: | 02 Nov 2022 10:00 |
URI: | https://orca.cardiff.ac.uk/id/eprint/97076 |
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