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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|September 23, 2008
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]A M Kaindl, U-P Guenther, S Rudnik-Schöneborn, et al.Journal of Molecular Medicine (Berlin, Germany)|November 3, 2001
A novel Q378X mutation exists in the transmembrane transporter protein ABCC6 and its pseudogene: implications for mutation analysis in pseudoxanthoma elasticumL Cai, A Lumsden, U P Guenther, et al.Pageof 1