Inborn Errors of Development |
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| Author:
| Epstein, Charles J.
Erickson, Robert P.
Wynshaw-Boris, Anthony |
| Series title: | Oxford Monographs on Medical Genetics Ser. |
| ISBN: | 978-0-19-530691-0 |
| Publication Date: | Apr 2008 |
| Publisher: | Oxford University Press, Incorporated
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| Book Format: | Hardback |
| List Price: | AUD $424.95 |
Book Description:
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Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the...
More DescriptionHonored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.