| Description |
1 online resource (xvi, 295 pages) : illustrations |
| Series |
The human molecular genetics series |
|
Human molecular genetics series.
|
| Contents |
Genotype to phenotype: interpretations of the human genome project / Sue Malcolm -- From protein sequence to structure and function / Sylvia B. Nagl -- Genes in population / François Cambien -- Gene-environment interaction: lipoprotein lipase and smoking and risk of CAD and the ACE and exercise-induced left ventricular hypertrophy as examples / Steve E. Humpreys, Philippa J. Talmud and Hugh Montgomery -- Pharmacogenomics / Ann K. Daly -- Mitochondrial genetics / P.F. Chinnery and D.M. Turnbull -- Identification of disease susceptibility genes (modifier) in mouse models: cancer and infectious disease / Tom van Wezel, Marie Lipoldova and Peter Demant -- The GNAS1 gene / D.T. Bonthron -- Genomic disorders / Susan L. Christian and David H. Ledbetter -- Genotype to phenotype in the spinocerebellar ataxias / Paul F. Worth and Nicholas W. Wood -- Disorders of cholesterol biosynthesis / David R. Fitzpatrick -- Mutations in the human HOX genes / Frances R. Goodman -- PITX2 gene in development / J. Murray and E. Semina -- The hedgehog pathway and developmental disorders / Allan E. Bale -- X-linked immunodeficiencies / H.B. Gaspar and Christine Kinnon -- The ubiquitin-proteasome system and genetic diseases: protein degradation gone awry / S. Russ Price and William E. Mitch |
| Summary |
This new edition builds on the success of the first by reviewing increased understanding of the mechanisms of geen action in humans, focussing particularly on those derived from the study of genetic diseases |
| Notes |
Revised edition of: From genotype to phenotype / edited by Steve Humphries, Sue Malcolm. 1994 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Genetic disorders.
|
|
Phenotype.
|
|
Human genetics -- Variation.
|
|
Mutation (Biology)
|
|
Genetic Diseases, Inborn -- genetics
|
|
Genetic Diseases, Inborn
|
|
Genetic Variation
|
|
Mutation
|
|
Phenotype
|
|
HEALTH & FITNESS -- Diseases -- Genetic.
|
|
MEDICAL -- Genetics.
|
|
Mutation (Biology)
|
|
Genetic disorders
|
|
Human genetics -- Variation
|
|
Phenotype
|
| Form |
Electronic book
|
| Author |
Malcolm, Sue
|
|
Goodship, J. (Judith)
|
| ISBN |
0203450426 |
|
9780203450420 |
|
9781135322939 |
|
1135322937 |
|
9781135322922 |
|
1135322929 |
|
