Volume 27, Number 2 (2001), in the article “Identification and Characterization of a Novel Mutation c.1090G>T (G325W) and Nine Common Mutant Alleles Leading to Gaucher Disease in Spanish Patients,” by M. A. Torralba, J. I. Pérez-Calvo, G. M. Pastores, A. Cenarro, P. Giraldo, and M. Pocoví, pages 489–495 (doi:10.1006/bcmd.2001.0410)

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Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 3, 2001-03 ,pp. : 713-713

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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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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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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

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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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