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Human Gene Mutation

David N. Cooper, Michael Krawczak (Autoren)

Buch | Softcover

416 Seiten

1993 | New edition
Bios Scientific Publishers Ltd (Verlag)
978-1-85996-055-4 (ISBN)

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Presents a short history of mutation research, an empirically-based analysis of the nature of human gene mutation, an assessment of the consequences of mutation at the level of gene expression and an overview of currently available methods for mutation detection and analysis.

An historical view of research into the nature of mutation; an introduction to the structure, function and expression of human genes; human genetic disease and its analysis - an overview; the methodology of mutation detection; indirect analysis of human genetic disease; single base-pair substitutions; gene deletions; gene insertions, duplications and inversions; single base-pair substitutions in mRNA splice junctions; regulatory mutations; mutations affecting RNA processing and translation; the genotype-phenotype relationship. Appendices: direct and indirect analysis of human genetic disease; single base-pair substitution database; deletion database (< than 20bp); examples of splice-site mutations; amino acid symbols and the genetic code; cancer-associated somatic mutations in the human TP53 gene.

Reihe/Serie	Human Molecular Genetics
Zusatzinfo	57 line illustrations, 3 half-tones
Verlagsort	London
Sprache	englisch
Maße	156 x 234 mm
Themenwelt	Studium ► 1. Studienabschnitt (Vorklinik) ► Histologie / Embryologie
	Studium ► 2. Studienabschnitt (Klinik) ► Pathologie
	Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie
ISBN-10	1-85996-055-3 / 1859960553
ISBN-13	978-1-85996-055-4 / 9781859960554
Zustand	Neuware