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- Beutler E., Gelbart T., West C. Identification of six new Gaucher disease mutations. Genomics. 1993 Jan;15(1):203–205. doi: 10.1006/geno.1993.1035. [DOI] [PubMed] [Google Scholar]
- Beutler E., West C., Gelbart T. Polymorphisms in the human glucocerebrosidase gene. Genomics. 1992 Apr;12(4):795–800. doi: 10.1016/0888-7543(92)90311-f. [DOI] [PubMed] [Google Scholar]
- Choudary P. V., Tsuji S., Martin B. M., Guild B. C., Mulligan R. C., Murray G. J., Barranger J. A., Ginns E. I. The molecular biology of Gaucher disease and the potential for gene therapy. Cold Spring Harb Symp Quant Biol. 1986;51(Pt 2):1047–1052. doi: 10.1101/sqb.1986.051.01.121. [DOI] [PubMed] [Google Scholar]
- Horowitz M., Wilder S., Horowitz Z., Reiner O., Gelbart T., Beutler E. The human glucocerebrosidase gene and pseudogene: structure and evolution. Genomics. 1989 Jan;4(1):87–96. doi: 10.1016/0888-7543(89)90319-4. [DOI] [PubMed] [Google Scholar]
- Ida H., Iwasawa K., Kawame H., Rennert O. M., Maekawa K., Eto Y. Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. Hum Genet. 1995 Jun;95(6):717–720. doi: 10.1007/BF00209497. [DOI] [PubMed] [Google Scholar]
- Long G. L., Winfield S., Adolph K. W., Ginns E. I., Bornstein P. Structure and organization of the human metaxin gene (MTX) and pseudogene. Genomics. 1996 Apr 15;33(2):177–184. doi: 10.1006/geno.1996.0181. [DOI] [PubMed] [Google Scholar]
- Sidransky E., Ginns E. I. Clinical heterogeneity among patients with Gaucher's disease. JAMA. 1993 Mar 3;269(9):1154–1157. [PubMed] [Google Scholar]
- Zimran A., Sorge J., Gross E., Kubitz M., West C., Beutler E. A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder. J Clin Invest. 1990 Jan;85(1):219–222. doi: 10.1172/JCI114415. [DOI] [PMC free article] [PubMed] [Google Scholar]