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140122 ||| eng |
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|a 9781461590682
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| 100 |
1 |
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|a Harris, Harry
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| 245 |
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|a Advances in Human Genetics
|h Elektronische Ressource
|c by Harry Harris
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| 250 |
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|a 1st ed. 1975
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| 260 |
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|a New York, NY
|b Springer US
|c 1975, 1975
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| 300 |
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|a XIII, 385 p
|b online resource
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| 505 |
0 |
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|a 1 The Chondrodystrophies -- Classification of the Chondrodystrophies -- Evaluation of the Dwarfed Patient -- Clinical, Radiographic, Genetic, and Pathological Features of the Chondrodystrophies -- Animal Models of the Chondrodystrophies -- Future Trends in Chondrodystrophy Research -- 2 New Techniques in the Study of Human Chromosomes: Methods and Applications -- Fluorescence Microscopy -- Giemsa Staining -- The Usage of Banding Techniques -- Abnormalities Detected by Banding Analysis -- Chemical Properties of the Bands -- Technical Appendix -- 3 The Thalassemias: Models for Analysis of Quantitative Gene Control -- History -- Definition -- Organization of Globin Genes -- Ontogeny of Hemoglobin Production -- Inheritance of Thalassemia -- Frequency of Thalassemia -- Regulation of Hemoglobin Synthesis and Turnover -- Transcription of Hemoglobin Genes -- Intranuclear Processing of the Primary Gene Product -- Transport of Messenger RNA to the Cytoplasm -- Cytoplasmic Metabolism of Messenger RNA -- Balance of Hemin and Globin (Protein) Synthesis in Reticulocytes -- Other Steps in Hemoglobin Synthesis and Degradation -- Pathophysiology of the Thalassemias -- Directions in Therapy -- Note Added in Proof -- 4 Spontaneous Mutation in Man -- “Classical” Mutation Rates -- Molecular Aspects of Human Mutation -- Spontaneous Mutation in Other Organisms and Its Significance for the Understanding of Human Mutations -- 5 Genetic Screening Legislation -- The Public Health Power -- Legislation Mandating Detection of Genetic Disease -- Legislation Mandating Screening for Genetic Traits -- Future of State-Supported Genetic Screening
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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 |
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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 10.1007/978-1-4615-9068-2
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| 856 |
4 |
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|u https://doi.org/10.1007/978-1-4615-9068-2?nosfx=y
|x Verlag
|3 Volltext
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| 082 |
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|a 616.042
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