E-Book, Englisch, Band 13, 312 Seiten, eBook
Reihe: Advances in Human Genetics
Harris Advances in Human Genetics
Erscheinungsjahr 2012
ISBN: 978-1-4615-8342-4
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark
E-Book, Englisch, Band 13, 312 Seiten, eBook
Reihe: Advances in Human Genetics
ISBN: 978-1-4615-8342-4
Verlag: Springer US
Format: PDF
Kopierschutz: 1 - PDF Watermark
Zielgruppe
Research
Autoren/Hrsg.
Weitere Infos & Material
1 The Genetics of Blood Coagulation.- Introduction: Blood Clotting Mechanisms.- Surface Contact Factors: Factors XI and XII, Prekallikrein, and High-Molecular-Weight Kininogen.- Vitamin K-Dependent Serine Proteases. The Prothrombin Complex: Factors II, VII, IX, and X and Protein C.- Factor V and Parahemophilia.- Factor VIII, Classical Hemophilia, and von Willebrand’s Disease.- Factor I (Fibrinogen).- Factor XIII (Fibrinoligase).- Inhibitors of Coagulation Proteases: Antithrombin III and ?2-Macroglobuli.- Fibrinolysis: Plasminogen and Plasmin, Plasminogen Activator, and ?2-Antiplasmin.- Concluding Remarks.- References.- 2 Marker (X)-Linked Mental Retardation.- Recognition of X-Linked Mental Retardation.- Definition of the Subgroup with the Marker X.- Clinical Features of mar(X)-Linked Mental Retardation.- X-Linked Mental Retardation without the Marker X.- Heterozygous Females.- Cytogenetic Features of mar(X)-Linked Mental Retardation.- Prevalence.- Mutation Rate.- Segregation.- Genetic Counseling.- Conclusions.- References.- 3 Human Antibody Genes: Evolutionary and Molecular Genetic Perspectives.- Mouse Immunoglobulin Genes.- Human V Genes.- Human CL Genes.- Human CH Genes.- Homologous Nonallelic Recombination between Immunoglobulin Gene Segments.- Sequence Conservation and Divergence of Immunoglobulin Genes.- Antibody Gene Expression in Relation to Lymphocyte Differentiation.- Some Future Prospects.- References.- 4 Mutations Affecting Trace Elements in Humans and Animals: A Genetic Approach to an Understanding of Trace Elements.- Copper.- Zinc.- Manganese.- Iron.- Cobalt.- Selenium.- Chromium.- Molybdenum.- Cadmium.- References.- 5 Phenylketonuria and Its Variants.- Classic PKU.- Variants of PKU.- Genetics: Linkage.- References.- Addenda.
