Human gene mutation
By: David N. Cooper, Michael Krawczak.
Contributors: Krawczak, Michael.
Series: Human molecular genetics
Publisher: Bios Scientific Publishers
Published: 1993
Place of publication: Oxford, England
Language: eng
Number of pages: 402
Subjects: Human genetics.; Hereditary Diseases -- genetics.
Notes: Includes bibliographical references and index.
Table of contents: title: Historical view of research into the nature of mutation; title: Introduction to the structure, function and expression of human genes; title: Human genetic disease, its analysis and diagnosis: an overview; title: Methodology of mutation detection; title: Indirect analysis of human genetic disease; title: Single base-pair substitutions; title: Gene deletions; title: Gene insertions, duplications and inversions; title: Single base-pair substitutions in human gene mRNA splice junctions and their phenotypic consequences; title: Regulatory mutations; title: Mutations affecting RNA processing and translation.; title: Genotype-phenotype relationship; title: Mutation rates in humans; title: Direct and indirect analysis of human genetic disease; title: Single base-pair substitution database; title: Deletion database; title: Examples of splice site mutations; title: Amino acid symbols and the genetic code.