Medical Genetics
Mosby (Verlag)
978-0-323-02025-1 (ISBN)
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This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics: the societal implications of technologies: the Human Genome Project; cloning, genetic enhancement, and embryonic stem cell research: new tumor suppressor genes and oncogenes and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitates review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes, coverage of ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features.
Background and History - What is Medical Genetics? - Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner? - A Brief History - Types of Genetic Diseases - The Clinical Impact of Genetic Disease - Basic Cell Biology: Structure and Function of Genes and Chromosomes - DNA, RNA, and Proteins: Heredity at the Molecular Level - The Structure of Genes and the Genome - The Cell Cycle - Genetic Variation: Its Origin and Detection - Mutation - The Source of Genetic Variation - Detection and Measurement of Genetic Variation - Autosomal Dominant and Recessive Inheritance - Basic Concepts of Formal Genetics - Autosomal Dominant Inheritance - Autosomal Recessive Inheritance - Factors That May Complicate Inheritance Patterns - Consanguinity in Human Populations - Sex-Linked and Mitochondrial Inheritance - X Inactivation - Sex-Linked Inheritance - Sex-Limited and Sex-Influenced Traits - Mitochondrial Inheritance - Clinical Cytogenetics: The Chromosomal Basis of Human Disease - Cytogenetic Technology and Nomenclature - Abnormalities of Chromosome Number - Chromosome Abnormalities and Pregnancy Loss - Abnormalities of Chromosome Structure - Chromosome Abnormalities and Clinical Phenotype - Cancer Cytogenetics - Chromosome Instability Syndromes - Biochemical Genetics: Disorders of Metabolism - Variants of Metabolism - Defects of Metabolic Processes - Pharmacogenetics - Gene Mapping and Cloning - Genetic Mapping - Physical Mapping and Cloning - The Human Genome Project - Immunogenetics - The Immune Response: Basic Concepts - Immune Response Proteins: Genetic Basis of Structure and Diversity - The Major Histocompatibility Complex - The ABO and Rh Blood Groups - Imm
Erscheint lt. Verlag | 5.9.2003 |
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Zusatzinfo | illustrations, 230 photographs, glossary, tables |
Verlagsort | London |
Sprache | englisch |
Maße | 216 x 276 mm |
Gewicht | 890 g |
Themenwelt | Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik |
ISBN-10 | 0-323-02025-9 / 0323020259 |
ISBN-13 | 978-0-323-02025-1 / 9780323020251 |
Zustand | Neuware |
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