Alpha-1-Antitrypsin Deficiency

David A. Lomas, David H. Perlmutter

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

3 Scopus citations
Original languageEnglish
Title of host publicationProtein Misfolding Diseases
Subtitle of host publicationCurrent and Emerging Principles and Therapies
PublisherJohn Wiley and Sons
Pages403-423
Number of pages21
ISBN (Print)9780471799283
DOIs
StatePublished - Jul 2 2010

Keywords

  • Alpha-1-antitrypsin deficiency
  • Cellular pathobiology of α1-antitrypsin deficiency - retention of mutant Z α1-antitrypsin
  • Classical form of α1-antitrypsin deficiency - target organ injury by loss-of-function and gain-of-toxic function mechanisms
  • Molecule in endoplasmic reticulum (ER)

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