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A G+1 to C mutation in a donor splice site of intron 2 in the apolipoprotein (apo) C-II gene in a patient with apo C-II deficiency

Allelic VariantC MutationGenetic DisorderNatural SciencesGeneticsInherited Metabolic DiseaseDonor Splice SitePathologyMolecular BiologyIntron 2Molecular GeneticsDisease Gene IdentificationGene ExpressionMedicineSplicing VariantClinical Genetics