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SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters
BACKGROUND: Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes. METHODS: Here we present a 16-year-old BVVLS patient b...
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| Foilsithe in: | Clin Chim Acta |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
2016
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5521005/ https://ncbi.nlm.nih.gov/pubmed/27702554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cca.2016.09.022 |
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