Human gene mutation / David N. Cooper, Michael Krawczak.

Oxford : Bios Scientific Publishers, 1993.

xiv, 402 pages : illustrations ; 24 cm.

Copy 1. Supplier/Donor: Wellcome Trust Sanger Institute.

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.

Includes bibliographical references and index.