Distinct Haplotype in Non-Ashkenazi Gaucher Patients with N370S Mutation

By Amaral O.   Marcao A.   Pinto E.   Zimran A.   Miranda M.C.S.  

Blood Cells, Molecules, and Diseases, Vol. 23, Iss. 3, 1997-12 ,pp. : 415-416

Academic Press

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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

Academic Press

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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

Academic Press

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Δ32 Mutation of the Chemokine-Receptor 5 Gene in Inflammatory Bowel Disease

By Martin K.   Heinzlmann M.   Borchers R.   Mack M.   Loeschke K.   Folwaczny C.  

Clinical Immunology, Vol. 98, Iss. 1, 2001-01 ,pp. : 18-22

Academic Press

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Prevalence of the chemokine receptor CCR5- 32 gene mutation in periodontal disease

By Folwaczny M.   Glas J.   Torok H.-P.   Fricke K.   Folwaczny C.  

Clinical Immunology, Vol. 109, Iss. 3, 2003-12 ,pp. : 325-329

Elsevier

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