A relatively rare type of mutation causing human genetic disease is the indel, a complex lesion that appears to represent a combination of micro-deletion and micro-insertion. In the absence of meta-analytical studies of indels, the mutational mechanisms underlying indel formation remain unclear. Dat
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Meta-analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
✍ Scribed by Jian-Min Chen; Nadia Chuzhanova; Peter D. Stenson; Claude Férec; David N. Cooper
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 68 KB
- Volume
- 25
- Category
- Article
- ISSN
- 1059-7794
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In the Human Gene Mutation Database (www.hgmd.org), microdeletions and microinsertions causing inherited disease (both defined as involving < or = 20 bp of DNA) account for 8,399 (17%) and 3,345 (7%) logged mutations, in 940 and 668 genes, respectively. A positive correlation was noted between the m