Associated Papers
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.
Abiri M et al.
Mutation Research, 2016
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Fernández-Guerra P et al.
Journal of Inherited Metabolic Disease, 2010
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