The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
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.
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`The most lucid and stimulating discussions of the topic to be found anywhere.' American Scientist, from a review of a previous volume
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Produktdetaljer

ISBN
9781461363118
Publisert
2012-10-24
Utgiver
Vendor
Springer-Verlag New York Inc.
Høyde
229 mm
Bredde
152 mm
Aldersnivå
Research, P, 06
Språk
Product language
Engelsk
Format
Product format
Heftet