Advances in Human Genetics 21
Springer-Verlag New York Inc.
978-1-4613-6311-8 (ISBN)
1Peroxisomal Diseases.- Historical Perspective.- The Normal Peroxisome.- Peroxisomal Disorders.- Concluding Remarks.- References.- 2X-Linked Immunodeficiencies.- Human X-Linked Immunodeficiency Syndromes.- Animal Models.- X-Chromosome Inactivation Patterns as an Indicator of Phenotype of X-Linked Immunodeficiencies.- Linkage Analysis.- Genetic Management.- References.- 3Genetic Mutations Affecting Human Lipoproteins, Their Receptors, and Their Enzymes.- Biosynthesis and Modifications of Lipoproteins and Apolipoproteins.- Lipoprotein Receptors: Structure, Function, and Genetic Variation.- Genetic Variation of Plasma Enzymes and Proteins Involved in Lipoprotein Metabolism.- Facilitated Exchange and Transfer of Lipid among Lipoprotein Classes.- The Role of Plasma Enzymes and Apolipoproteins in the Reverse Transport of Cholesterol.- Apolipoproteins: Structure, Function, and Genetic Variation.- Proteins Associated with Lipoprotein Particles.- Regulation of Apolipoprotein Synthesis.- Future Directions.- References.- 4Genetic Aspects of Cancer.- Chromosomal Localization of Recessive Oncogenes.- Allele Loss.- The Position-Dependent Approach to Gene Cloning.- Molecularly Characterized Recessive Oncogenes.- Tumor Suppressor Genes Close to Isolation.- Conclusions.- References.- 5Gaucher Disease: Enzymology, Genetics, and Treatment.- Clinical Classification.- Specific Organ System Involvement.- Pathophysiology.- Biochemistry.- Molecular Biology.- Molecular Biology of the Activator Proteins.- Therapeutic Prospects in Gaucher Disease.- Diagnosis.- Clinical Genetics and Prevention.- References.- Addenda.
| Reihe/Serie | Advances in Human Genetics ; 21 |
|---|---|
| Zusatzinfo | XXII, 465 p. |
| Verlagsort | New York, NY |
| Sprache | englisch |
| Maße | 152 x 229 mm |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| ISBN-10 | 1-4613-6311-X / 146136311X |
| ISBN-13 | 978-1-4613-6311-8 / 9781461363118 |
| Zustand | Neuware |
| Informationen gemäß Produktsicherheitsverordnung (GPSR) | |
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