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Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseDirect Sequencing AnalysisPathologyMolecular BiologyMolecular GeneticsSeven Novel MutationsGenomicsDisease Gene IdentificationMedicineBioinformaticsVariant Interpretation