Overview

The latest in the series of literature reviews designed to keep specialists in genetics and related fields abreast of current developments. The five articles cover the lethal osteochondrodysplasias, mutations in type I procollagen genes that cause osteogenesis imperfecta, structural defects in inher

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Author:   Harry Harris
Publisher:   Springer-Verlag New York Inc.
Imprint:   Springer-Verlag New York Inc.
Edition:   Softcover reprint of the original 1st ed. 1975
Volume:   5
Dimensions:   Width: 15.20cm , Height: 2.00cm , Length: 22.90cm
Weight:   0.584kg
ISBN:  

9781461590705

ISBN 10:   1461590701
Pages:   385
Publication Date:   27 December 2012
Audience:   Professional and scholarly ,  Professional & Vocational
Format:   Paperback
Publisher's Status:   Active
Availability:   Manufactured on demand  
We will order this item for you from a manufactured on demand supplier.

Table of Contents

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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