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55. Gaucher disease type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions. Baris HN; Raas-Rothschild A; Garty BZ; Tor R; Klontz S; Tayebi N; Sidransky E; Cohen IJ Blood Cells Mol Dis; 2011 Dec; 47(4):262-3. PubMed ID: 21889374 [No Abstract] [Full Text] [Related]
56. Three unrelated Gaucher's disease patients with three novel point mutations in the glucocerebrosidase gene (P266R, D315H and A318D). Walley AJ; Ellis I; Harris A Br J Haematol; 1995 Oct; 91(2):330-2. PubMed ID: 8547070 [TBL] [Abstract][Full Text] [Related]
58. 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]
59. 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]
60. Glucocerebrosidase mutation T369M appears to be another polymorphism. Walker JM; Lwin A; Tayebi N; LaMarca ME; Orvisky E; Sidransky E Clin Genet; 2003 Mar; 63(3):237-8. PubMed ID: 12694238 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]