Mutation Mechanisms

Daniele Castiglia, Giovanna Zambruno

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)17-22
Number of pages6
JournalDermatologic Clinics
Issue number1
Publication statusPublished - Jan 2010


  • Epidermolysis bullosa
  • Inheritance patterns
  • Mendelian diseases
  • Mutation types

ASJC Scopus subject areas

  • Dermatology


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