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Retrotransposable genetic elements causing neutrophil defects.

Dirk RoosMartin de Boer
Published in: European journal of clinical investigation (2018)
Probably, the occurrence of LINE-1-mediated insertions causing autosomal CGD has been underestimated. It might be worthwhile to reinvestigate the DNA from autosomal CGD patients with missplice mutations and large deletions for indications of LINE-1-mediated insertions.
Keyphrases
  • risk assessment
  • single molecule