L-2-Hydroxyglutaric aciduria: Identification of ten novel mutations in the L2HGDH gene
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Auteurs | Sass JO, Jobard F, Topcu M, Mahfoud A, Werle E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M and Fischer J |
Revue | Journal of Inherited Metabolic Disease 31 (), S275-S279, 2008 |
Année | 2,008 |
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Institut | IG |
url DOI | 10.1007/s10545-008-0855-4 |