Mitochondrial Disease Genes Compendium, From Genes to Clinical Manifestations

Mitochondrial Disease Genes Compendium, From Genes to Clinical Manifestations


Features:
  • Provides a readily intelligible, all-in-one reference of known mitochondrial disease genes and their associated conditions
  • Features live links to Mitochondrial Disease Sequence Data Resource (MSeqDR) pages with regularly updated genetic variant data and bioinformatics tools
  • Covers the inheritance patterns, age spectrum affected, major clinical features, therapeutics, support groups, and research currently under way for over 250 mitochondrial diseases
Table Of Contents:

1. Foreword
Marni J. Falk, MD
2. State-of-the Field Introduction: The history and evolving paradigm for genomic diagnosis of mitochondrial diseases
David R. Thorburn, PhD
3. Mitochondrial Disease Genes Compendium: Connecting with Knowledge in the Mitochondrial Disease Sequence Data Resource (MSeqDR)
Marni J. Falk, MD, Lishuang Shen, PhD, and Xiaowu Gai, PhD
4. 256 Mitochondrial Disease Genes 

Appendix
1: Mitochondrial Disease Gene Index and Author Acknowledgements
2: Mitochondrial Disease Patient Advocacy Groups List

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  • Συγγραφέας: Marni J. Falk
  • Εκδότης: Elsevier
  • ISBN: 9780128200292
  • Σελίδες: 548
  • Έτος Έκδοσης: 2020
  • Διαστάσεις: 191 X 235 mm
  • Διαθεσιμότητα: Διαθέσιμο
  • 153,00€
  • Χωρίς ΦΠΑ: 144,34€

Ετικέτες: Genes, Genomes