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Genetic Disorders ed. download

Download Genetic Disorders ed.
  • Upload date: 7-02-2016, 15:40
  • Category: Science

ITAe | 2013 | ISBN: 9789535108863 | 352 Pages | PDF | 26 MB
This book aims to provide an overview on some of the latest developments in several genetic diseases. It contains 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, it is a valuable resource for medical practitioners, researchers, biologists and students in various medical sciences.

Contents
Preface
1 A Therapeutic Role for Hematopoietic Stem Cells in Osteogenesis Imperfecta
2 Laminopathies
3 Hutchinson-Gilford Progeria Syndrome
4 Genetic Determinants of Heart Rate Variation and Cardiovascular Diseases
5 Structural Insights Into Disease Mutations of the Ryanodine Receptor
6 The Genetics of Mental Retardation
7 Molecular Bases of Ataxia Telangiectasia: One Kinase Multiple Functions
8 Epilepsy and Genetics
9 Rett Syndrome: A Model of Genetic Neurodevelopmental Disorders
10 Genetic Diseases Associated with Protein Glycosylation Disorders in Mammals
11 Genetics and Obesity
12 Role of the Genetic Factors in the Development of Myopia
13 Bone Marrow Microenvironment Defects in Fanconi Anemia
14 Cystic Fibrosis: Does CFTR Malfunction Alter pH Regulation?

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