Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Hamish S. Scott, Jun Kudoh, Marie Wattenhofer, Kazunori Shibuya, Asher Berry, Roman Chrast, Michel Guipponi, Jun Wang, Kazuhiko Kawasaki, Shuichi Asakawa, Shinsei Minoshima, Farah Younus, S. Qasim Mehdi, Uppala Radhakrishna, Marie Pierre Papasavvas, Corinne Gehrig, Colette Rossier, Michael Korostishevsky, Andreas Gal, Nobuyoshi ShimizuBatsheva Bonne-Tamir, Stylianos E. Antonarakis

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Medicine & Life Sciences