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

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

Publisher: Oxford University Press

ISSN: 1460-2083

Source: Human Molecular Genetics, Vol.21, Iss.22, 2012-11, pp. : 4904-4909

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Abstract