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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.
Zakup książki
Human Gene Mutation, David Neil Cooper, Michael Krawczak
- Język
- Rok wydania
- 1993
- Oprawa
- (twarda)
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- Tytuł
- Human Gene Mutation
- Język
- angielski
- Autorzy
- David Neil Cooper, Michael Krawczak
- Wydawca
- BIOS Scientific Publishers
- Rok wydania
- 1993
- Oprawa
- twarda
- Liczba stron
- 402
- ISBN10
- 1872748414
- ISBN13
- 9781872748412
- Seria
- Tagi
- Nauki przyrodnicze, Nauka, Tematyka medyczna, Literatura fachowa, Genetyka, Biochemia, Podstawy, Patologia, Biologia molekularna, Cytologia
- Opis
- 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.