Article
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.
Human mutation - 1 Jan 2003
Chuzhanova Nadia A, Anassis Emmanuel J, Ball Edward V, Krawczak Michael, Cooper David N
Abstract excerpt
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. Data from the Human Gene Mutation Database (HGMD) were therefore used to compare and contrast 211 different indels...
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