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

By Romano M.   Danek G.M.   Baralle F.E.   Mazzotti R.   Filocamo M.  

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

Academic Press

Access to resources Recommend Favorite

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

By Sinclair G.   Choy F.Y.M.   Beutler L.E.  

Blood Cells, Molecules, and Diseases, Vol. 24, Iss. 4, 1998-12 ,pp. : 420-427

Academic Press

Access to resources Recommend Favorite

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

By Hodaňová K.   Hřebíček M.   Červenková M.   Mrázová L.   Vepřeková L.   Beutler J.E.  

Blood Cells, Molecules, and Diseases, Vol. 25, Iss. 5, 1999-10 ,pp. : 287-298

Academic Press

Access to resources Recommend Favorite

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

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

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

Academic Press

Access to resources Recommend Favorite

Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease - Prototype for a structurally novel flavoenzyme family

By Roesler J.   Heyden S.   Burdelski M.   Schafer H.   Kreth H.-W.   Lehmann R.   Paul D.   Marzahn J.   Gahr M.   Rosen-Wolff A.  

Experimental Hematology, Vol. 27, Iss. 3, 1999-03 ,pp. : 505-511

Elsevier

Access to resources Recommend Favorite