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Nature Genetics|December 2, 1999
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisC Toomes, J James, A J Wood, et al.Human Molecular Genetics|April 1, 1997
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP)P S Rowe, C L Oudet, F Francis, et al.Pageof 10