| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833494 | Molecular Genetics and Metabolism | 2012 | 10 Pages |
Abstract
Our results expand the mutation spectrum in GALT gene and the list of GALT variations analyzed at the structural level, providing new data to assess the pathophysiology of galactosemia.
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Authors
Audrey Boutron, Anna Marabotti, Angelo Facchiano, David Cheillan, Mokhtar Zater, Christophe Oliveira, Catherine Costa, Philippe Labrune, Michèle Brivet, French Galactosemia Working Group French Galactosemia Working Group,