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6. 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. Romano M; Danek GM; Baralle FE; Mazzotti R; Filocamo M Blood Cells Mol Dis; 2000 Jun; 26(3):171-6. PubMed ID: 10950936 [TBL] [Abstract][Full Text] [Related]
7. New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. Uchiyama A; Tomatsu S; Kondo N; Suzuki Y; Shimozawa N; Fukuda S; Sukegawa K; Taki N; Inamori H; Orii T Hum Mol Genet; 1994 Jul; 3(7):1183-4. PubMed ID: 7981693 [No Abstract] [Full Text] [Related]
9. Sequence of two alleles responsible for Gaucher disease. Hong CM; Ohashi T; Yu XJ; Weiler S; Barranger JA DNA Cell Biol; 1990 May; 9(4):233-41. PubMed ID: 1972019 [TBL] [Abstract][Full Text] [Related]
10. Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1. Concolino D; Mussari A; Filocamo M; Strisciuglio P Clin Genet; 2003 Sep; 64(3):261-2. PubMed ID: 12919144 [No Abstract] [Full Text] [Related]
11. Simplified detection of Nci mutation in Gaucher disease. Dahl N; Lagerström M; Erikson A; Pettersson U Lancet; 1990 Jun; 335(8705):1589-90. PubMed ID: 1972504 [No Abstract] [Full Text] [Related]
12. Identification of a novel three-nucleotide insertion mutation (c.841-842insTGA) in the acid beta-glucosidase gene of a Taiwan Chinese patient with type II Gaucher disease. Wu JY; Wu MC; Lee CC; Tsai FJ Hum Mutat; 2001 Mar; 17(3):238. PubMed ID: 11241851 [No Abstract] [Full Text] [Related]
13. Gaucher disease: the N370S mutation in Ashkenazi Jewish and Spanish patients has a common origin and arose several thousand years ago. Díaz A; Montfort M; Cormand B; Zeng B; Pastores GM; Chabás A; Vilageliu L; Grinberg D Am J Hum Genet; 1999 Apr; 64(4):1233-8. PubMed ID: 10090913 [No Abstract] [Full Text] [Related]
14. Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity. Choy FY; Woo M; Der Kaloustian VM Am J Med Genet; 1991 Jun; 39(4):466-71. PubMed ID: 1877626 [TBL] [Abstract][Full Text] [Related]
15. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596 [TBL] [Abstract][Full Text] [Related]
17. Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site. Tuteja R; Tuteja N; Lilliu F; Bembi B; Galanello R; Cao A; Baralle FE Hum Genet; 1994 Sep; 94(3):314-5. PubMed ID: 8076951 [No Abstract] [Full Text] [Related]
18. Linear dichroism for the detection of single base pair mutations. Halsall DJ; Rodger A; Dafforn TR Chem Commun (Camb); 2001 Dec; (23):2410-1. PubMed ID: 12239990 [TBL] [Abstract][Full Text] [Related]
19. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S). Bodamer OA; Church HJ; Cooper A; Wraith JE; Scott CR; Scaglia F Am J Med Genet; 2002 May; 109(4):328-31. PubMed ID: 11992489 [TBL] [Abstract][Full Text] [Related]
20. 55-base pair deletion in certain patients with Gaucher disease complicates screening for common Gaucher alleles. Tayebi N; Stern H; Dymarskaia I; Herman J; Sidransky E Am J Med Genet; 1996 Dec; 66(3):316-9. PubMed ID: 8985494 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]