Journal of Inherited Metabolic Disease · 2002 · 22 citations · 1 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsGenetic DisordersMendelian DisordersMutation AnalysisMutation ScreeningScreening Of MutantsVariant DetectionGermline Mutation AnalysisMutant DetectionPathogenic Variant Detection
This study reports the development of a mutation screening strategy for tyrosinaemia type I, and the identification of six novel mutations in the FAA gene.
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Crystal structure and mechanism of a carbon–carbon bond hydrolase
David E. Timm, H.A. Mueller, P. Bhanumoorthy et al. · Structure · 1999 · 81 citations