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Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis

Fabry DiseaseMendelian DisorderGenetic DisorderMedicineGeneticsClinical GeneticsPathologyGene MutationsMolecular GeneticsDisease Gene IdentificationVariant InterpretationMolecular DiagnosticsJapanese PatientsMonogenic Disorders