Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization

By Tayebi N.   Callahan M.   Madike V.   Stubblefield B.K.   Orvisky E.   Krasnewich D.   Fillano J.J.   Sidransky E.  

Molecular Genetics and Metabolism, Vol. 73, Iss. 4, 2001-08 ,pp. : 313-321

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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

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Type 2 Gaucher Disease with Hydrops Fetalis in an Ashkenazi Jewish Family Resulting from a Novel Recombinant Allele and a Rare Splice Junction Mutation in the Glucocerebrosidase Locus

By Reissner K.   Tayebi N.   Stubblefield B.K.   Koprivica V.   Blitzer M.   Holleran W.   Cowan T.   Almashanu S.   Maddalena A.   Karson E.M.   Sidransky E.  

Molecular Genetics and Metabolism, Vol. 63, Iss. 4, 1998-04 ,pp. : 281-288

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High Prevalence of the 55-bp Deletion (c.1263del55) in Exon 9 of the Glucocerebrosidase Gene Causing Misdiagnosis (for Homozygous N370S (c.1226A > G) Mutation) in Spanish Gaucher Disease Patients

By Torralba M.A.   Alfonso P.   Pérez-Calvo J.I.   Cenarro A.   Pastores G.M.   Giraldo P.   Civeira F.   Pocoví M.  

Blood Cells, Molecules, and Diseases, Vol. 29, Iss. 1, 2002-01 ,pp. : 35-40

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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

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