Mutations in human genetic disease

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)

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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:	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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