Advances in Human Genetics 21
(Sprache: Englisch)
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
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Klappentext zu „Advances in Human Genetics 21 “
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
Inhaltsverzeichnis zu „Advances in Human Genetics 21 “
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.
Bibliographische Angaben
- 2012, XXII, 465 Seiten, Maße: 22,9 cm, Kartoniert (TB), Englisch
- Herausgegeben: Harry Harris, Kurt Hirschhorn
- Verlag: Springer, Berlin
- ISBN-10: 146136311X
- ISBN-13: 9781461363118
Sprache:
Englisch
Pressezitat
`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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