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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Identification of a Novel Recombinant Allele in Three Unrelated Italian Gaucher Patients: Implications for Prognosis and Genetic Counseling

By Filocamo M.   Bonuccelli G.   Mazzotti R.   Giona F.   Gatti R.  

Blood Cells, Molecules, and Diseases, Vol. 26, Iss. 4, 2000-08 ,pp. : 307-311

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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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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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Five New Gaucher Disease Mutations

By Beutler E.   Gelbart T.   demina A.   Zimran A.   LeCoutre P.  

Blood Cells, Molecules, and Diseases, Vol. 21, Iss. 1, 1995-04 ,pp. : 20-24

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