Functional Characterization of the Novel Mutation IVS 8 (-11delC) (-14T>A) in the Intron 8 of the Glucocerebrosidase Gene of Two Italian Siblings with Gaucher Disease Type I

Author： Romano M.   Danek G.M.   Baralle F.E.   Mazzotti R.   Filocamo M.  

Publisher： Academic Press

ISSN： 1079-9796

Source： Blood Cells, Molecules, and Diseases, Vol.26, Iss.3, 2000-06, pp. : 171-176

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