Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis

Alessandra Pangrazio, Alessandro Puddu, Manuela Oppo, Maria Valentini, Luca Zammataro, Ashok Vellodi, Blanca Gener, Isabel Llano-Rivas, Jamal Raza, Irum Atta, Paolo Vezzoni, Andrea Superti-Furga, Anna Villa, Cristina Sobacchi

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Medicine & Life Sciences