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- 402pages
- 15 heures de lecture
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Human Gene Mutation brings together for the first time a short history of mutation research, a comprehensive analysis of the nature of human gene mutation (single base-pair substitutions, deletions, splice site, promoter mutations, etc.), and an assessment of the consequences of mutation both at the level of gene expression and for the complex relationship between genotype and clinical phenotype. Laboratory methods for mutation detection and analysis and current possibilities in molecular diagnostic medicine are also reviewed.
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Human Gene Mutation, David Neil Cooper, Michael Krawczak
- Langue
- Année de publication
- 1993
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- Titre
- Human Gene Mutation
- Langue
- Anglais
- Auteurs
- David Neil Cooper, Michael Krawczak
- Éditeur
- BIOS Scientific Publishers
- Publié
- 1993
- Format
- rigide
- Pages
- 402
- ISBN10
- 1872748414
- ISBN13
- 9781872748412
- Séries
- Mots clés
- Nonfiction, Science et Mathématiques, Sciences naturelles, Biologie, Science, Médecine, Littérature spécialisée, Génétique, Biochimie, Fondements, Pathologie, Biologie moléculaire, Cytologie
- Description
- Human Gene Mutation brings together for the first time a short history of mutation research, a comprehensive analysis of the nature of human gene mutation (single base-pair substitutions, deletions, splice site, promoter mutations, etc.), and an assessment of the consequences of mutation both at the level of gene expression and for the complex relationship between genotype and clinical phenotype. Laboratory methods for mutation detection and analysis and current possibilities in molecular diagnostic medicine are also reviewed.
