Autosomal recessive bestrophinopathy is not associated with the loss of bestrophin-1 anion channel function in a patient with a novel BEST1 mutation

Adiv A. Johnson, Lori A. Bachman, Benjamin J. Gilles, Samuel D. Cross, Kimberly E. Stelzig, Zachary T. Resch, Lihua Y. Marmorstein, Jose S. Pulido, Alan D. Marmorstein

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Medicine & Life Sciences