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.

2010

https://researcherprofiles.org/profile/1476510

20431954

Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P