Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations

By Alfonso P.   Cenarro A.   Pérez-Calvo J.I.   Giralt M.   Giraldo P.   Pocoví M.  

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 5, 2001-05 ,pp. : 882-891

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Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

By Bisanzi S.   Morrone A.   Donati M.A.   Pasquini E.   Spada M.   Strisciuglio P.   Parenti G.   Parini R.   Papadia F.   Zammarchi E.  

Molecular Genetics and Metabolism, Vol. 76, Iss. 2, 2002-06 ,pp. : 137-144

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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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Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients

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

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 2, 2001-02 ,pp. : 489-495

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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

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