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Y418C: a novel mutation in exon 9 of the glucocerebrosidase gene of a patient with Gaucher disease creates a new Bgl I site |
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| Authors: | Renu Tuteja Narendra Tuteja Franco Lilliu Bruno Bembi Renzo Galanello Antonio Cao Francisco E Baralle |
| Institution: | (1) International Centre for Genetic Engineering and Biotechnology-UNIDO, Padriciano 99, Area Science Park, I-34012 Trieste, Italy;(2) Istituto di Clinica e Biologia dell'Età Evolutiva, Università degli Studi di Cagliari, Via Jenner, I-09100 Cagliari, Italy;(3) Istituto Burlo Garofolo of Trieste, Via dell'Istria 65/1, I-34145 Trieste, Italy |
| 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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