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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 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.
- Sales Rank: #2532463 in Books
- Published on: 2008-04-09
- Original language: English
- Number of items: 1
- Dimensions: 8.80" h x 2.60" w x 11.20" l, 9.31 pounds
- Binding: Hardcover
- 1664 pages
Review
"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional."-- Doody's
"The editors have outdone themselves with this edition of their wonderful review of the link between morphogenesis and aberrant morphogenesis as directed by gene expression...This is a masterpiece...This is an impressive and exciting book, a must-have for clinical geneticists and basic scientists at all levels of their careers. There is no publication comparable to this wonderful and well edited and written book. The quality is exceptional."-- Doody's
..".amazingly comprehensive...This book is an extraordinary accomplishment; no clinical geneticist can function without it."--American Journal of Medical Genetics
..".the editors and authors have excelled in communicating mind-bogglingly complex processes to a very wide readership who may now marvel and consider how lucky we are to be studying, researching or otherwise employed at such a moment in time."--Human Genetics
About the Author
Charles Epstein is a Professor of Pediatrics at the University of California in San Francisco. Robert Erickson is a Professor of Human Genetics at the University of Arizona. Anthony Wynshaw-Boris is an Associate Professor of Pediatrics at the University of California in San Diego.
Most helpful customer reviews
1 of 1 people found the following review helpful.
wow - 1580 pages of transcription factors, promotors, enhancers, SNPs, photos, charts, and text
By ray merewether
A steep learning curve to read and understand even a fraction of the material in this book. I stumbled into the book while searching for background on GPR56. What I found provided a good frame of reference for an article in Science in 2013.
0 of 0 people found the following review helpful.
A very informative book that is packed with information, ...
By J. Carson
A very informative book that is packed with information, however I have 2 major issue with it. First, many sections seem poorly written and poorly organized with many sentences seemingly just slapped together at random and some that don't seem to have any real context with the rest of the paragraph. Second, in many instances the section and subsection levels are poorly defined. Going by the different font styles and section title/subtitle positioning, there are many places where there seems to be a change in level where none is warranted and many places where no change is present when one should be present.
0 of 0 people found the following review helpful.
Five Stars
By Amazon Customer
Excelent textbook!
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