Advances in Human Genetics 21
Published on 24. October 2012
Book
Paperback/Softback
XXII, 465 pages
978-1-4613-6311-8 (ISBN)
Description
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
Reviews / Votes
` The most lucid and stimulating discussions of the topic to be found anywhere. 'American Scientist, from a review of a previous volume
More details
Series
Edition
Softcover reprint of the original 1st ed. 1993
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Research
Illustrations
XXII, 465 p.
Dimensions
Height: 229 mm
Width: 152 mm
Thickness: 27 mm
Weight
706 gr
ISBN-13
978-1-4613-6311-8 (9781461363118)
DOI
10.1007/978-1-4615-3010-7
Schweitzer Classification
Other editions
Additional editions
Harry Harris | Kurt Hirschhorn
Advances in Human Genetics 21
Book
05/1993
1st Edition
Kluwer Academic / Plenum Publishers
€96.00
Article exhausted; check different version
Content
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.