Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Eleonora Palagano, Harry C Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C Ferrari, Guido Grappiolo, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi Keywords AUTOSOMAL RECESSIVE OSTEOPETROSIS;TCIRG1;EXOME;HYPOMORPHIC MUTATION;SPLICING DEFECT Abstract Autosomal recessive osteopetrosis … Leggi tutto