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CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|May 1, 1987
Feasibility of chemical screening of urine for neuroblastoma case finding in infancy in QuebecC R Scriver, D Gregory, M Bernstein, et al.Brain : a Journal of Neurology|June 1, 1994
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patientsP M Matthews, R M Brown, L J Otero, et al.American Journal of Human Genetics|January 1, 1995
Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in EuropeansR C Eisensmith, A A Goltsov, C O'Neill, et al.European Journal of Human Genetics : EJHG|January 1, 1993
A Pst+ polymorphism in the HEXA gene with an unusual geographic distributionF Kaplan, S Kapoor, D Lee, et al.Human Mutation|December 25, 2007
Recommendations for locus-specific databases and their curationR G H Cotton, A D Auerbach, J S Beckmann, et al.Pageof 18