Mutation Mechanisms

被引：4

作者：

Castiglia, Daniele ^{[1
]}

Zambruno, Giovanna ^{[1
]}

机构：

[1] IDI IRCCS, Lab Mol & Cell Biol, I-00167 Rome, Italy

来源：

DERMATOLOGIC CLINICS | 2010年 / 28卷 / 01期

关键词：

Mendelian diseases; Inheritance patterns; Mutation types; Epidermolysis bullosa; DYSTROPHIC EPIDERMOLYSIS-BULLOSA; BASE-PAIR SUBSTITUTIONS; VII COLLAGEN; SPLICING MUTATIONS; GERMLINE MOSAICISM; UNIPARENTAL DISOMY; COL7A1; MUTATIONS; GENE; IDENTIFICATION; RECOMBINATION;

D O I：

10.1016/j.det.2009.10.002

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：17 / +

页数：7

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