Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site

Tuteja, Renu ; Tuteja, Narendra ; Lilliu, Franco ; Bembi, Bruno ; Galanello, Renzo ; Cao, Antonio ; Baralle, Francisco E. (1994) Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site Human Genetics, 94 (3). pp. 314-315. ISSN 0340-6717

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Official URL: http://www.springerlink.com/content/p13378815047k7...

Related URL: http://dx.doi.org/10.1007/BF00208292

Abstract

We report a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease and of Sardinian origin.

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ID Code:52457
Deposited On:04 Aug 2011 11:57
Last Modified:04 Aug 2011 11:57

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