Mutation mechanisms.
A mutation is an event that produces heritable changes in the DNA. There are many different types of mutations, including point mutations (changes that imply loss, duplication, or alterations of small DNA segments, often involving a single or a few nucleotides) and major DNA changes (loss, duplication, or rearrangements of entire genes or of gene segments). This article reviews how different types of mutation may result in defective gene expression.
Castiglia
Daniele
D
Laboratory of Molecular and Cell Biology, IDI-IRCCS, Via dei Monti di Creta 104, 00167 Rome, Italy.
Zambruno
Giovanna
G
D004820:Epidermolysis Bullosa / Q000235:genetics*; D017353:Gene Deletion; D020440:Gene Duplication; D015321:Gene Rearrangement; D006801:Humans; D009154:Mutation