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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

BiologyMendelian DisorderGaucher DiseaseGenetic DisorderGeneticsInherited Metabolic DiseasePathologyGenetic EngineeringMolecular GeneticsDisease Gene IdentificationAshkenazi Jewish FamilyMedicineLysosomal Storage DiseaseHydrops Fetalis