Article
Homozygosity for the double D409H+H255Q allele in type II Gaucher disease.
Journal of inherited metabolic disease - 1 Aug 2006
Michelakakis Helen, Moraitou Marina, Dimitriou Evagelia, Santamaria Raul, Sanchez Gessami, Gort Laura, Chabas Amparo, Grinberg Daniel, Dassopoulou Maria, Fotopoulos Spyros, Vilageliu Lluisa
Abstract excerpt
Homozygosity for D409H has been associated with a unique type III subtype of the disease with a phenotype dominated by severe cardiovascular involvement, whereas neurological findings, if present, are restricted to oculomotor apraxia and features such as visceromegaly are either minimal or absent. Using PCR amplification followed by restriction enzyme analysis, 3 patients (1 Greek, 2 Albanians) were IDentified...
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