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

  • Cooper, David N. (David Neil), 1957-
Date:
1993
  • Books

About this work

Publication/Creation

Oxford : Bios Scientific Publishers, 1993.

Physical description

xiv, 402 pages : illustrations ; 24 cm.

Bibliographic information

Includes bibliographical references and index.

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.

Notes

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

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Where to find it

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    M9881

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Identifiers

ISBN

  • 1872748414
  • 9781872748412