Mutation Mechanisms

Research output: Contribution to journalArticle

Abstract

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
Volume28
Issue number1
DOIs
Publication statusPublished - Jan 2010

Keywords

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

ASJC Scopus subject areas

  • Dermatology

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