Genetic disease discovery and therapeutics /

Presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders. This book investigates methodologies applied to the characterization of d...

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Bibliographic Details
Main Author: Smith, Moyra (Author)
Corporate Author: ScienceDirect (Online service)
Format: eBook
Language:English
Published: London, United Kingdom ; San Diego, CA, United States ; Cambridge, MA, United States : Elsevier, Academic Press, an Imprint of Elsevier, [2025]
Subjects:
Online Access:Connect to the full text of this electronic book
Description
Summary:Presents information on the methods used to determine how specific gene defects influence pathology and phenotype and to review novel therapeutic approaches designed for the treatment of specific genetic and genomic disorders. This book investigates methodologies applied to the characterization of downstream functional effects of specific gene mutations associated with altered phenotypes and clinical disease. It documents evidence of how specific mutations influence pathology and lead to disease manifestations. This book also reviews information on therapeutic approaches that could potentially be applied in diseases due to gene defects. It is a reference for scientists and graduate students involved in laboratory research related to genetics, physiology, pathology, and pharmacology as well as clinicians who encounter patients with genetic disorders.
Physical Description:1 online resource
Bibliography:Includes bibliographical references and index.
ISBN:9780443236471
044323647X