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 |
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Pages (from-to) | 17-22 |
Number of pages | 6 |
Journal | Dermatologic Clinics |
Volume | 28 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2010 |
Keywords
- Epidermolysis bullosa
- Inheritance patterns
- Mendelian diseases
- Mutation types
ASJC Scopus subject areas
- Dermatology