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Medical Genetics - Lynn B. Jorde

Medical Genetics

(Autor)

Buch | Softcover
384 Seiten
2003 | 3rd Revised edition
Mosby (Verlag)
978-0-323-02025-1 (ISBN)
CHF 57,60 inkl. MwSt
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Offering the information needed to understand modern genetics, this comprehensive study guide includes the latest findings from genetic research and details of how that knowledge can be used in clinical practice.
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
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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