New Insights into the Origin of the Gaucher Disease-Causing Mutation N370S: Extended Haplotype Analysis Using the 5GC3.2, 5470 G/A, and ITG6.2 Polymorphisms

By Rodríguez-Marí A.   Díaz-Font A.   Chabás A.   Pastores G.M.   Grinberg D.   Vilageliu L.  

Blood Cells, Molecules, and Diseases, Vol. 27, Iss. 5, 2001-05 ,pp. : 950-959

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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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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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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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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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