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- Abrahamov A., Elstein D., Gross-Tsur V., Farber B., Glaser Y., Hadas-Halpern I., Ronen S., Tafakjdi M., Horowitz M., Zimran A. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet. 1995 Oct 14;346(8981):1000–1003. doi: 10.1016/s0140-6736(95)91688-1. [DOI] [PubMed] [Google Scholar]
- Beutler E., Kattamis C., Sipe J., Lipson M. 1342C mutation in Gaucher's disease. Lancet. 1995 Dec 16;346(8990):1637–1637. doi: 10.1016/s0140-6736(95)91975-9. [DOI] [PubMed] [Google Scholar]
- Bornstein P., McKinney C. E., LaMarca M. E., Winfield S., Shingu T., Devarayalu S., Vos H. L., Ginns E. I. Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease. Proc Natl Acad Sci U S A. 1995 May 9;92(10):4547–4551. doi: 10.1073/pnas.92.10.4547. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Chabás A., Cormand B., Grinberg D., Burguera J. M., Balcells S., Merino J. L., Mate I., Sobrino J. A., Gonzàlez-Duarte R., Vilageliu L. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. J Med Genet. 1995 Sep;32(9):740–742. doi: 10.1136/jmg.32.9.740. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Glenn D., Gelbart T., Beutler E. Tight linkage of pyruvate kinase (PKLR) and glucocerebrosidase (GBA) genes. Hum Genet. 1994 Jun;93(6):635–638. doi: 10.1007/BF00201562. [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]
- Mistry P. K. Genotype/phenotype correlations in Gaucher's disease. Lancet. 1995 Oct 14;346(8981):982–983. doi: 10.1016/s0140-6736(95)91680-6. [DOI] [PubMed] [Google Scholar]
- Uyama E., Takahashi K., Owada M., Okamura R., Naito M., Tsuji S., Kawasaki S., Araki S. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. Acta Neurol Scand. 1992 Oct;86(4):407–420. doi: 10.1111/j.1600-0404.1992.tb05109.x. [DOI] [PubMed] [Google Scholar]
- Zimran A., Gelbart T., Beutler E. Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. Am J Hum Genet. 1990 May;46(5):902–905. [PMC free article] [PubMed] [Google Scholar]