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International Medical Case Reports Journal Volume 4, 2011 - Issue
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Case Report

Homozygous N396T mutation in Gaucher disease: Portuguese sisters with markedly different phenotypes

Samantha Kimball1 Department of Nutritional Sciences, University of Toronto, Canada;2 Department of Laboratory Medicine and Pathology, Division of Hematology, Mt Sinai Hospital, Toronto, Canada
,
Francis Choy4 Department of Biology, University of Victoria, Victoria, Canada
,
Agnes Zay5 MRC Center for Regenerative Medicine, University of Edinburgh, Edinburgh, Scotland
&
Dominick Amato3 Department of Medicine, Division of Hematology, Mt Sinai Hospital, Toronto, CanadaCorrespondence[email protected]
Pages 17-20 | Published online: 16 Mar 2011

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