TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents.

Julien H ParkJiraporn OusingsawatInês CabritaRuth E BettelsJörg Große-OnnebrinkChristian SchmalstiegSaskia BiskupJanine ReunertStephan RustRainer SchreiberKarl KunzelmannThorsten Marquardt

Published in: Journal of medical genetics (2020)

TMEM16A deficiency is a potentially fatal disorder caused by abolished calcium-activated Cl- currents in secretory epithelia. Secondary impairment of CFTR function did not cause a CF phenotyp, which may have implications for CF treatment.

Keyphrases

cystic fibrosis
replacement therapy