@article{3090595, title = "Gaucher disease: Frequency of the N370S mutation in the Greek population", author = "Dimitriou, E. and Moraitou, M. and Troungos, C. and Schulpis, K. and Michelakakis, H.", journal = "Application of Clinical Genetics", year = "2010", volume = "78", number = "2", pages = "195-196", doi = "10.1111/j.1399-0004.2010.01381.x", keywords = "chitotriosidase; genomic DNA; N370S protein; protein; unclassified drug; glucosylceramidase, enzyme activity; Gaucher disease; gene deletion; gene frequency; gene mutation; genotype; Greece; heterozygote; homozygote; human; letter; mutational analysis; phenotype; population genetics; priority journal; adolescent; adult; child; enzymology; genetics; mutation; patient referral, Adolescent; Adult; Child; Gaucher Disease; Glucosylceramidase; Greece; Homozygote; Humans; Mutation; Referral and Consultation; Young Adult" }