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Mutation databases

Analysis of Mitochondrial DNA Sequences in Childhood Encephalomyopathies Reveals New Disease-Associated Variants

Aijaz A. Wani, Sajad H. Ahanger, Sharmila A. Bapat, Ashraf Y. Rangrez, Nitin Hingankar, C. G. Suresh, Shama Barnabas, Milind S. Patole, Yogesh S. Shouche

published 26 Sep 2007

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Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, Mark Samuels

published 01 Aug 2007

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