Advances in the Study of Genetic Disorders by Kenji Ikehara
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Overview: This book provides readers with background and several methodologies for understanding genetic disorders, genetic defects, diagnoses and treatments of the respective unifactorial and multifactorial genetic disorders.
The knowledge of genetic disorders described in this book will lead to the discovery of an epoch of new medical treatment and relieve human beings from the genetic disorders of the future.
Contents
Part 1 Background of Genetic Disorder
1 Origin of the Genetic Code and Genetic Disorder
2 Inbreeding and Genetic Disorder
3 Cytogenetic Techniques in Diagnosing Genetic Disorders
4 Functional Interpretation of Omics Data by Profiling Genes and Diseases using MeSH-Controlled Vocabulary
5 Targeted Metabolomics for Clinical Bio marker Discovery in Multifactorial Diseases
Part 2 Unifactorial or Unigenetic Disorder
6 Thalassemia Syndrome
7 Genomic Study in b-Thalassemia
8 HMG-CoA Lyase Deficiency
9 Mitochondrial HMG-CoA Synthase Deficiency
10 Alstrom Syndrome
11 Alpha One Antitrypsin Deficiency: A Pulmonary Genetic Disorder
12 Tangier Disease
13 Fabry Disease: A Metabolic Proteinuric Nephropathy
14 Fabry Cardiomyopathy: A Global View
15 The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum
Part 3 Multifactorial or Polygenic Disorder
16 Peroxisomal Biogenesis: Genetic Disorders Reveal the Mechanisms
17 Repair of Impaired Host Peroxisomal Properties Cropped Up Due to Visceral Leishmaniasis May Lead to Overcome Peroxisome Related Genetic Disorder Which May Develop Later After Treatment
18 Genetic Basis of Inherited Bone Marrow Failure Syndromes
19 Bernard Soulier Syndrome: A Genetic Bleeding Disorder
20 Prader-Willi Syndrome, from Molecular Testing and Clinical Study to Diagnostic Protocols
21 Turner Syndrome and Sex Chromosomal Mosaicism
22 Microstomia: A Rare but Serious Oral Manifestation of Inherited Disorders
Genre: Educational
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