Advances in Human Genetics
Published on 27. December 2012
Book
Paperback/Softback
XIII, 385 pages
978-1-4615-9070-5 (ISBN)
Description
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.
More details
Series
Edition
Softcover reprint of the original 1st ed. 1975
Language
English
Place of publication
New York
United States
Target group
Professional and scholarly
Research
Product notice
Paperback (trade)
Unsewn / adhesive bound
Illustrations
XIII, 385 p.
Dimensions
Height: 229 mm
Width: 152 mm
Thickness: 22 mm
Weight
577 gr
ISBN-13
978-1-4615-9070-5 (9781461590705)
DOI
10.1007/978-1-4615-9068-2
Schweitzer Classification
Other editions
Additional editions
H. Harris | Harry Harris | Kurt Hirschhorn
Advances in Human Genetics: v. 5
Book
06/1975
Springer
€111.07
Article exhausted; check different version
Content
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.