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Literature DB >> 12000368

Identification of two novel mutations, L105R and C342R, in Type I Gaucher disease.

Abstract

Entities: Disease Mutation

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Authors: Litsa Karageorgos; Malcolm J Lancaster; Judith S Nimmo; John J Hopwood
Journal: J Inherit Metab Dis Date: 2010-10-27 Impact factor: 4.982

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