Mutation Mechanisms

Daniele Castiglia; Giovanna Zambruno

doi:10.1016/j.det.2009.10.002

Mutation Mechanisms

Research output: Contribution to journal › Article › peer-review

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 language	English
Pages (from-to)	17-22
Number of pages	6
Journal	Dermatologic Clinics
Volume	28
Issue number	1
DOIs	https://doi.org/10.1016/j.det.2009.10.002
Publication status	Published - Jan 2010

Keywords

Epidermolysis bullosa
Inheritance patterns
Mendelian diseases
Mutation types

ASJC Scopus subject areas

Dermatology

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10.1016/j.det.2009.10.002

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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.",

keywords = "Epidermolysis bullosa, Inheritance patterns, Mendelian diseases, Mutation types",

author = "Daniele Castiglia and Giovanna Zambruno",

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AB - 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.

KW - Epidermolysis bullosa

KW - Inheritance patterns

KW - Mendelian diseases

KW - Mutation types

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Mutation Mechanisms

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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