| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5906850 | Gene | 2013 | 4 Pages |
Abstract
⺠First molecular characterization of maple syrup urine disease Tunisian patients ⺠Identification of a new MSUD causal mutation in BCKDHB gene (c.716A>G; p.Glu239Gly) ⺠Evaluation of the functional impact of the mutation p.Glu239Gly of BCKDHB gene ⺠Identification of a new MSUD causal mutation in DBT (c.1333_1336delAATG; p.Asn445X)
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Authors
N. Jaafar, A. Moleirinho, E. Kerkeni, K. Monastiri, H. Seboui, A. Amorim, M.J. Prata, S. Quental,