Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

Philippe M Campeau, James T Lu, Gautam Sule, Ming-Ming Jiang, Yangjin Bae, Simran Madan, Wolfgang Högler, Nicholas J Shaw, Steven Mumm, Richard A Gibbs, Michael P Whyte, Brendan H Lee

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Medicine & Life Sciences