Disorders of protein misfolding: Alpha-1-antitrypsin deficiency as prototype

Research output: Contribution to journalArticlepeer-review

22 Scopus citations
Original languageEnglish
Pages (from-to)320-326
Number of pages7
JournalJournal of Pediatrics
Volume163
Issue number2
DOIs
StatePublished - Aug 2013
Externally publishedYes

Keywords

  • AT
  • ATD
  • ATM
  • ATZ
  • Alpha-1-antitrypsin
  • Alpha-1-antitrypsin deficiency
  • CBZ
  • COPD
  • Carbamazepine
  • Chronic obstructive pulmonary disease
  • ER
  • Endoplasmic reticulum
  • FDA
  • Federal Drug Administration
  • Mutant alpha-1-antitrypsin Z
  • Normal (wild type) alpha-1-antitrypsin
  • PBA
  • Phenylbutyric acid
  • RNA interference
  • RNAi
  • SNP
  • Single nucleotide polymorphism

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