Human Gene Mutation by David N Cooper

Human Gene Mutation by David N Cooper

Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions. This informative, readable and highly-praised volu

David N. Cooper has been Professor of Human Molecular Genetics at Cardiff University since 1996. His research interests focus largely on molecular mechanisms of mutagenesis and genotype-phenotype relationships in a variety of different inherited disorders, population genetics, gene expression, cancer genetics, growth hormone genetics, and molecular evolution. He has written or co-authored Human Gene Mutation (1993), The Molecular Genetics of Haemostasis and Its Inherited Disorders (1994), Venous Thrombosis: From Genes to Clinical Medicine (1997), Human Gene Evolution (1999) and The Molecular Genetics of Lung Cancer (2005). He has also co-edited The Functional Analysis of the Human Genome (1995), Gene Therapy (1996), Neurofibromatosis Type 1: From Genotype to Phenotype (1998) and Fascioscapulohumeral Muscular Dystrophy: Clinical Medicine and Molecular Cell Biology (2004). He acted as Editor-in-Chief of the Nature Encyclopedia of the Human Genome (2003) and is currently Editor of the Genetics & Disease section of the Wiley Encyclopedia of Life Sciences. He has been European Editor of the journal Human Genetics since 1997 and Curator of the Human Gene Mutation Database (www.hgmd.org) since 1996.

Hildegard Kehrer Sawatzki is a Senior Research Fellow in the Institute of Human Genetics, University of Ulm, Germany where she has been a group leader since 2000. She has published extensively in the field of molecular medicine and molecular evolution. Alongside her long-term work on the tumour predisposition syndrome, type 1 neurofibromatosis, she has developed a keen interest in the comparative analysis of the human, chimpanzee and macaque genomes in order to identify inter-species genetic differences, particularly those which are human-specific. She has characterized, at the molecular level, the microscopically-visible chromosomal differences between human and chimpanzee known as pericentric inversions. In addition, she has performed detailed genomic comparisons which have contributed to the identification of the hundreds of small submicroscopic inversions, insertions, deletions and copy number differences that are largely responsible for the genetic divergence of the primates. In 2007, she received the Merckle Research Prize for her work on evolutionary and disease-associated chromosomal breakpoints.
David Cooper and Hildegard Kehrer-Sawatzki are the ELS section editors for Genetics & Disease and Evolution & Diversity of Life, respectively.

SKU	Unavailable
ISBN 13	9781859960554
ISBN 10	1859960553
Title	Human Gene Mutation
Author	David N Cooper
Series	Human Molecular Genetics
Condition	Unavailable
Binding Type	Paperback
Publisher	Taylor & Francis Ltd
Year published	1993-06-15
Number of pages	416
Cover note	Book picture is for illustrative purposes only, actual binding, cover or edition may vary.
Note	Unavailable