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DNA mutation analysis of Gaucher patients.
Sidransky E, Tsuji S, Martin BM, Stubblefield B, Ginns EI. Sidransky E, et al. Am J Med Genet. 1992 Feb 1;42(3):331-6. doi: 10.1002/ajmg.1320420315. Am J Med Genet. 1992. PMID: 1536173
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus.
Reissner K, Tayebi N, Stubblefield BK, Koprivica V, Blitzer M, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, Sidransky E. Reissner K, et al. Among authors: sidransky e. Mol Genet Metab. 1998 Apr;63(4):281-8. doi: 10.1006/mgme.1998.2675. Mol Genet Metab. 1998. PMID: 9635296
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