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Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece.


ABSTRACT: Highlights•Gaucher disease in Greece has an incidence estimate of 2.8/100,000 births.•Mutation analysis in 125 patients identified 28 different mutations and 37 different genotypes.•Seven of the mutations were not previously reported: T231I, D283N, N462Y, LI75P, F81L, Y135S and T482K.•Mutation D409H;H255Q was only identified in Greek and Albanian patients.

SUBMITTER: Dimitriou E 

PROVIDER: S-EPMC7284128 | BioStudies | 2020-01-01

SECONDARY ACCESSION(S): M16328

REPOSITORIES: biostudies

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