These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
158 related articles for article (PubMed ID: 9061570)
1. Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations. Ida H; Rennert OM; Kawame H; Maekawa K; Eto Y J Inherit Metab Dis; 1997 Mar; 20(1):67-73. PubMed ID: 9061570 [TBL] [Abstract][Full Text] [Related]
2. Mutation screening of 17 Japanese patients with neuropathic Gaucher disease. Ida H; Rennert OM; Kawame H; Ito T; Maekawa K; Eto Y Hum Genet; 1996 Aug; 98(2):167-71. PubMed ID: 8698334 [TBL] [Abstract][Full Text] [Related]
3. Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation. Cormand B; Harboe TL; Gort L; Campoy C; Blanco M; Chamoles N; Chabás A; Vilageliu L; Grinberg D Am J Med Genet; 1998 Dec; 80(4):343-51. PubMed ID: 9856561 [TBL] [Abstract][Full Text] [Related]
4. 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; 38(3):287-93. PubMed ID: 17196853 [TBL] [Abstract][Full Text] [Related]
5. Clinical and molecular characteristics of Japanese Gaucher disease. Eto Y; Ida H Neurochem Res; 1999 Feb; 24(2):207-11. PubMed ID: 9972866 [TBL] [Abstract][Full Text] [Related]
6. Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations. Alfonso P; Cenarro A; Pérez-Calvo JI; Giralt M; Giraldo P; Pocoví M Blood Cells Mol Dis; 2001; 27(5):882-91. PubMed ID: 11783951 [TBL] [Abstract][Full Text] [Related]
7. Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies. Michelakakis H; Dimitriou E; Van Weely S; Boot RG; Mavridou I; Verhoek M; Aerts JM J Inherit Metab Dis; 1995; 18(5):609-15. PubMed ID: 8598642 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. The E326K mutation and Gaucher disease: mutation or polymorphism? Park JK; Tayebi N; Stubblefield BK; LaMarca ME; MacKenzie JJ; Stone DL; Sidransky E Clin Genet; 2002 Jan; 61(1):32-4. PubMed ID: 11903352 [TBL] [Abstract][Full Text] [Related]
10. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Ida H; Iwasawa K; Kawame H; Rennert OM; Maekawa K; Eto Y Hum Genet; 1995 Jun; 95(6):717-20. PubMed ID: 7789963 [TBL] [Abstract][Full Text] [Related]
11. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495 [TBL] [Abstract][Full Text] [Related]
12. Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. Filocamo M; Mazzotti R; Stroppiano M; Seri M; Giona F; Parenti G; Regis S; Corsolini F; Zoboli S; Gatti R Hum Mutat; 2002 Sep; 20(3):234-5. PubMed ID: 12204005 [TBL] [Abstract][Full Text] [Related]
13. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Koprivica V; Stone DL; Park JK; Callahan M; Frisch A; Cohen IJ; Tayebi N; Sidransky E Am J Hum Genet; 2000 Jun; 66(6):1777-86. PubMed ID: 10796875 [TBL] [Abstract][Full Text] [Related]
14. [An analysis of mutations causing Gaucher disease in Chinese population]. Zhang WM; Tang NL; Meng Y; Yao FX; Qiu ZQ; Duan YL; Huang SZ; Shi HP Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(48):3397-400. PubMed ID: 20223112 [TBL] [Abstract][Full Text] [Related]
15. Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients. Choy FY; Humphries ML; Shi H Am J Med Genet; 1997 Aug; 71(2):172-8. PubMed ID: 9217217 [TBL] [Abstract][Full Text] [Related]
16. Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms. Kawame H; Hasegawa Y; Eto Y; Maekawa K Hum Genet; 1992 Nov; 90(3):294-6. PubMed ID: 1487244 [TBL] [Abstract][Full Text] [Related]
17. 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; 14(1):88. PubMed ID: 10447266 [TBL] [Abstract][Full Text] [Related]
18. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Horowitz M; Pasmanik-Chor M; Borochowitz Z; Falik-Zaccai T; Heldmann K; Carmi R; Parvari R; Beit-Or H; Goldman B; Peleg L; Levy-Lahad E; Renbaum P; Legum S; Shomrat R; Yeger H; Benbenisti D; Navon R; Dror V; Shohat M; Magal N; Navot N; Eyal N Hum Mutat; 1998; 12(4):240-4. PubMed ID: 9744474 [TBL] [Abstract][Full Text] [Related]
19. Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations. Mattošová S; Chandoga J; Hlavatá A; Saligová J; Maceková D Isr Med Assoc J; 2015 Mar; 17(3):166-70. PubMed ID: 25946768 [TBL] [Abstract][Full Text] [Related]
20. Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients. Horowitz M; Tzuri G; Eyal N; Berebi A; Kolodny EH; Brady RO; Barton NW; Abrahamov A; Zimran A Am J Hum Genet; 1993 Oct; 53(4):921-30. PubMed ID: 8213821 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]