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

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Bibliographic Details
Title: Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis.
Authors: Pangrazio, Alessandra1,2, Puddu, Alessandro3,4, Oppo, Manuela3, Valentini, Maria3, Zammataro, Luca2, Vellodi, Ashok5, Gener, Blanca6, Llano-Rivas, Isabel6, Raza, Jamal7, Atta, Irum7, Vezzoni, Paolo1,2, Superti-Furga, Andrea8, Villa, Anna1,2, Sobacchi, Cristina1,2 cristina.sobacchi@humanitasresearch.it
Source: BONE (8756-3282). Feb2014, Vol. 59, p122-126. 5p.
Database: Academic Search Ultimate
Description
ISSN:87563282
DOI:10.1016/j.bone.2013.11.014