Lung disease caused by ABCA3 mutations


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Kroener C., Wittmann T., Reu S., Teusch V., Klemme M., Rauch D., ...More

THORAX, vol.72, no.3, pp.213-220, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 72 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.1136/thoraxjnl-2016-208649
  • Title of Journal : THORAX
  • Page Numbers: pp.213-220

Abstract

Background Knowledge about the clinical spectrum of lung disease caused by variations in the ATP binding cassette subfamily A member 3 (ABCA3) gene is limited. Here we describe genotype-phenotype correlations in a European cohort.