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Journal Abstract Search

186 related items for PubMed ID: 14757438

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  • 4. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.
    Blood Cells Mol Dis; 2001; 27(2):489-95. PubMed ID: 11259172
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  • 6. Genotype/phenotype relationship in Gaucher disease patients. Novel mutation in glucocerebrosidase gene.
    Lepe-Balsalobre E, Santotoribio JD, Nuñez-Vazquez R, García-Morillo S, Jiménez-Arriscado P, Hernández-Arévalo P, Delarosa-Rodríguez R, Guerrero JM, Macher HC.
    Clin Chem Lab Med; 2020 Jun 25; 58(12):2017-2024. PubMed ID: 32589593
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  • 8. Residual enzymatic activity as a prognostic factor in patients with Gaucher disease type 1: correlation with Zimran and GAUSS-I index and the severity of bone disease.
    Torralba MA, Olivera S, Bureo JC, Dalmau J, Nuñez R, León P, Villarrubia J.
    QJM; 2016 Jul 25; 109(7):449-52. PubMed ID: 26792850
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  • 9. Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
    Montfort M, Chabás A, Vilageliu L, Grinberg D.
    Hum Mutat; 2004 Jun 25; 23(6):567-75. PubMed ID: 15146461
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  • 10. Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.
    Cormand B, Grinberg D, Gort L, Chabás A, Vilageliu L.
    Hum Mutat; 1998 Jun 25; 11(4):295-305. PubMed ID: 9554746
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  • 12. Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.
    Hodanová K, Hrebícek M, Cervenková M, Mrázová L, Vepreková L, Zemen J.
    Blood Cells Mol Dis; 1999 Jun 25; 25(5-6):287-98. PubMed ID: 10744424
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  • 13. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
    Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.
    Blood Cells Mol Dis; 2005 Jun 25; 35(2):253-8. PubMed ID: 15967693
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  • 14. [Genetics of Gaucher's disease. Genotype-phenotype correlation].
    Alfonso Palacín P, Pocoví M.
    Med Clin (Barc); 2011 Sep 25; 137 Suppl 1():17-22. PubMed ID: 22230121
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  • 16. Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online.
    Sarria AJ, Giraldo P, Perez-Calvo JI, Pocoví M.
    Hum Mutat; 1999 Sep 25; 14(1):88. PubMed ID: 10447266
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  • 18. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
    Choy FY, Zhang W, Shi HP, Zay A, Campbell T, Tang N, Ferreira P.
    Blood Cells Mol Dis; 2007 Sep 25; 38(3):287-93. PubMed ID: 17196853
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  • 19. Analysis of the β-glucocerebrosidase gene in Turkish Gaucher disease patients: mutation profile and description of a novel mutant allele.
    Karaca E, Kalkan S, Onay H, Aykut A, Coker M, Ozkinay F.
    J Pediatr Endocrinol Metab; 2012 Sep 25; 25(9-10):957-62. PubMed ID: 23426826
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  • 20. Genetic and clinical features of patients with Gaucher disease in Hungary.
    Erdos M, Hodanova K, Taskó S, Palicz A, Stolnaja L, Dvorakova L, Hrebicek M, Maródi L.
    Blood Cells Mol Dis; 2007 Sep 25; 39(1):119-23. PubMed ID: 17395504
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