Research Catalog

From genotype to phenotype

Title
From genotype to phenotype / [edited by] Steve E. Humphries, Sue Malcolm.
Publication
Oxford : BIOS Scientific ; Herndon, VA : USA and Canada distributor, Books International, 1994.

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Additional Authors
  • Humphries, Steve E.
  • Malcolm, Sue.
Description
xx, 290 pages : illustrations; 24 cm.
Summary
  • The study of how the effects of different mutations - the genotype of the individual - are modified by other genetic factors and by the environment to produce variable clinical symptoms - the phenotype - is one of the fastest growing areas of human molecular genetics. From Genotype to Phenotype provides a unique review of the mechanisms of interaction between genotype and phenotype, for both common and rare genetic disorders.
  • This book will provide readers with a detailed understanding of common human phenotypes, which will improve disease diagnosis and help determine specific therapeutic measures for the future. Books in the Human Molecular Genetics series are important review volumes covering recent advances in the field for all human molecular geneticists, genetic counsellors and clinicians.
Series Statement
Human molecular genetics series
Uniform Title
Human molecular genetics series.
Subject
  • Genetic disorders
  • Human genetics > Variation
  • Genetic disorders
Bibliography (note)
  • Includes bibliographical references and index.
Contents
1. Mutations and human disease -- 2. Cystic fibrosis -- 3. Mutations in type I and type III collagen genes -- 4. Genotype-phenotype correlation in Gaucher disease -- 5. Familial hypercholesterolaemia -- 6. The molecular basis of Charcot-Marie-Tooth disease -- 7. The genetics of Wilms' tumour -- 8. How a dynamic mutation manifests in myotonic dystrophy -- 9. Length variation in fragile X -- 10. Somatic mosaicism, chimerism and X inactivation -- 11. Mitochondrial DNA-associated disease -- 12. Diabetes: from phenotype to genotype and back to phenotype -- 13. Coronary artery disease and the variability gene concept: the effect of smoking on plasma levels of high density lipoprotein and fibrinogen -- 14. Genetic predisposition to dyslipidaemia and accelerated atherosclerosis: environmental interactions and modification by gene therapy.
ISBN
1872748627 :
LCCN
gb 94053303
OCLC
ocm30814730
Owning Institutions
Columbia University Libraries