基本説明
Provides the current standard in molecular genetic testing.
Full Description
Molecular Pathology Testing in Clinical Practice: Genetics is an authoritative and comprehensive guide that provides the general pathologist in clinical practice, as well as residents and fellows during their training, with the current standard in molecular genetic testing. The book integrates the latest advancements in the field with the basic principles and practical applications.
Contents
Basics of Molecular Biology.- Molecular Pathology Methods.- Genetic Counseling.- Pedigree Analysis and Risk Assessment.- Bayesian Analysis.- Developmental Disabilities.- Neuromuscular Diseases.- Molecular Genetic Testing for Metabolic Disorders.- Fibroblast Growth Factor Receptor-Related Skeletal Disorders.- Cystic Fibrosis.- Deafness.- Coagulation Disorders.- Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility.- Cardiovascular Disease.- Neurodegenerative Disorders.- Skin and Connective Tissue Disorders.- Inherited Breast Cancer.- Familial Adenomatous Polyposis and Turcot and Peutz-Jeghers Syndromes.- Hereditary Nonpolyposis Colorectal Cancer.- Multiple Endocrine Neoplasia Syndromes.- The Neurofibromatoses.- TP53 Mutation and Li-Fraumeni Syndrome.- Von Hippel-Lindau Disease.- Perentage and Relationship Testing.- Molecular Pathology Laboratory Management.- From Research to Clinical Practice.
