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Human Gene Mutation

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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

Taal
Jaar van publicatie
1993
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(Hardcover)
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Titel
Human Gene Mutation
Taal
Engels
Jaar van publicatie
1993
Formaat
Hardcover
Aantal pagina's
402
ISBN10
1872748414
ISBN13
9781872748412
Reeks
Aantekening
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.