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摘要
摘要
This is a reference guide for information in the field of molecular biology. It covers areas such as, the effects of genes, their location on the chromosomes and what treatment, if any, can be recommended to paediatricians and other clinicians whose patients show certain signs and symptoms. This eighth edition has been expanded and updated to include colon cancer, breast cancer, triplet repeat disorders, fragile X mental retardation, biochemical and molecular mechanisms, and clinical diagnosis and management approaches.
评论 (1)
Doody 图书评论
This is the expanded and updated eighth edition of one of the most well known, authoritative genetics texts. The seventh edition assumed the purpose of becoming a textbook of the contribution of genetics to medicine. This aim is extended even further in this four-volume edition, presenting comprehensive information from basic research and clinical sources. The work contains an awe-inspiring amount of information and by and large fulfills its lofty aims. The number of chapters has increased by 100 and the selection criteria for inclusion, "an identifiable molecular explanation for the disease and it affects a dynamic phenotype." is wide. Inevitably, selection exists but the range of human disorders covered is truly impressive. For a 500-author work the writing is concise -- accessible, even -- and the book achieves its aims. A wide readership of scientists and physicians is anticipated. Any professional desiring an in-depth discourse on a particular human disorder with a genetic component or more general themes of human genetics will benefit from consulting this book, but it assumes a degree of basic scientific understanding. The authors and editors are all eminent and recognized authorities in their field. The book is well illustrated. The plentiful accompanying tables are helpful summaries of complex information. The references are pertinent and relevant and the table of contents and index are more than adequate. The appearance of the book is enhanced by its new green coloration and a cover depicting the double helix. The uniqueness of this book lies in its willingness to not only report individual disorders in detail, but to develop general themes in the face of rapid scientific advances. In my opinion, this work has no peer and is an outstanding contribution to the medico-scientific texts currently available. No library should be without a copy. It deserves its reputation as a classic. Ian A. Glass, MD(University of Washington School of Medicine). Copyright 2001, Doody Publishing
目录
I Introduction |
II Perspectives |
III General themes |
IV Cancer |
V Chromosomes |
VI Diagnostic approaches |
VII Carbohydrates |
VIII Amino acids |
IX Organic acids |
X Disorders of mitochondrial function |
XI Purines and pyrimidines |
XII Lipids |
XIII Porphyrins |
XIV Metals |
XV Peroxisomes |
XVI Lysosomal disorders |
XVII Vitamins |
XVIII Hormones |
XIX Blood |
XX Immune and defense systems |
XXI Membrane transport disorders |
XXII Connective tissue |
XXIII Cardiovascular system |
XXIV Kidney |
XXV Muscle |
XXVI Lung |
XXVII Skin |
XXVIII Neurogenetics |
XXIX Eye |
XXX Multisystem inborn errors of development |