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Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia.

Saygın AbalıZehra Yavas AbaliKanay YararbasSerap Semiz
Published in: Journal of pediatric endocrinology & metabolism : JPEM (2021)
Early identification of FDH is fundamental to prevent unnecessary repeats of TFT with different methods. We encourage the ALB gene hot spot sequencing initially and indicate that this molecular diagnosis is a rapid and simple method to diagnose FDH in individuals with euthyroid hyperthyroxinemia.
Keyphrases
  • copy number
  • genome wide
  • loop mediated isothermal amplification
  • genome wide identification
  • physical activity
  • single cell
  • early onset
  • transcription factor
  • genome wide analysis
  • quantum dots
  • sensitive detection