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Uchiyama A., Tomatsu S., Kondo N., Suzuki Y., Shimozawa N., Fukuda S., Sukegawa K., Taki N., Inamori H., Orii T. New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. - Hum.Mol.Genet., 1994, v. 3, p. 1183- 1184.
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