Human gene mutation /

Bibliographic Details
Main Author:	Cooper, David N. (David Neil), 1957-
Other Authors:	Krawczak, Michael
Format:	Book
Language:	English
Published:	Oxford, UK : Bios Scientific Publishers, 1993.
Subjects:	Mutation > genetics. Genetic Diseases, Inborn > genetics.

Table of Contents:

Historical view of research into the nature of mutation
Introduction to the structure, function and expression of human genes
Human genetic disease, its analysis and diagnosis: an overview
Methodology of mutation detection
Indirect analysis of human genetic disease
Single base-pair substitutions
Gene deletions
Gene insertions, duplications and inversions
Single base-pair substitutions in human gene mRNA splice junctions and their phenotypic consequences
Regulatory mutations
Mutations affecting RNA processing and translation.
Genotype-phenotype relationship
Mutation rates in humans
Direct and indirect analysis of human genetic disease
Single base-pair substitution database
Deletion database
Examples of splice site mutations
Amino acid symbols and the genetic code.