Identification of a 55-bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease: Phenotypic Presentation and Implications for Mutation Detection Assays

Author： Mao R.   O'Brien J.F.   Rao S.   Schmitt E.   Roa B.   Feldman G.L.   Spence W.C.   Snow K.  

Publisher： Academic Press

ISSN： 1096-7192

Source： Molecular Genetics and Metabolism, Vol.72, Iss.3, 2001-03, pp. : 248-253

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