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Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

✍ Scribed by A. Chabás; B. Cormand; S. Balcells; R. González-Duarte; C. Casanova; J. Colomer; Ll. Vilageliu; D. Grinberg


Publisher
Springer
Year
1996
Tongue
English
Weight
154 KB
Volume
19
Category
Article
ISSN
0141-8955

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A 444leucine to proline mutation detected by a NciI polymorphism in the human glucocerebrosidase gene was studied to investigate the correlation of the three clinical phenotypes of Gaucher disease with this mutation in 11 Japanese patients with Gaucher disease (type I, 8 patients; type II, 1 patient