Genetic Disorders
About this book
Human genetics is the medical field with the most rapid progress. This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 14 chapters focused on various genetic disorders addressing epidemiology, etiology, molecular basis and novel treatment options for these diseases. The chapters were written by 41 collaborators, from 8 different countries in Europe, Asia, and America, with great expertise in their field. Chapters are heterogeneous, offering a welcomed personalized view on each particular subject. The book does not offer a systematic overview of human genetic disorders. However, they are a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.
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Information
Table of contents
- Genetic Disorders
- Contents
- Preface
- Chapter 1 A Therapeutic Role for Hematopoietic Stem Cells in Osteogenesis Imperfecta
- Chapter 2 Laminopathies
- Chapter 3 Hutchinson-Gilford Progeria Syndrome
- Chapter 4 Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases
- Chapter 5 Structural Insights Into Disease Mutations of the Ryanodine Receptor
- Chapter 6 The Genetics of Mental Retardation
- Chapter 7 Molecular Bases of Ataxia Telangiectasia: One Kinase Multiple Functions
- Chapter 8 Epilepsy and Genetics
- Chapter 9 Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders
- Chapter 10 Genetic Diseases Associated with Protein Glycosylation Disorders in Mammals
- Chapter 11 Genetics and Obesity
- Chapter 12 Role of the Genetic Factors in the Development of Myopia
- Chapter 13 Bone Marrow Microenvironment Defects in Fanconi Anemia
- Chapter 14 Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?
