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140122 ||| eng |
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|a 9781461583424
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| 100 |
1 |
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|a Harris, Harry
|e [editor]
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| 245 |
0 |
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|a Advances in Human Genetics
|h Elektronische Ressource
|c edited by Harry Harris
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| 250 |
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|a 1st ed. 1983
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| 260 |
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|a New York, NY
|b Springer US
|c 1983, 1983
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| 300 |
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|a XIX, 312 p. 7 illus
|b online resource
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| 505 |
0 |
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|a 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
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| 653 |
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|a Medical Genetics
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| 653 |
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|a Medical genetics
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| 041 |
0 |
7 |
|a eng
|2 ISO 639-2
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| 989 |
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|b SBA
|a Springer Book Archives -2004
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| 490 |
0 |
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|a Advances in Human Genetics
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| 028 |
5 |
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|a 10.1007/978-1-4615-8342-4
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| 856 |
4 |
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|u https://doi.org/10.1007/978-1-4615-8342-4?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
0 |
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|a 616.042
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