Chun K.,1995
Chun K., MacKay N., Petrova-Benedict R., Federico A., Fais A., Cole D.E.C., Robertson E., Robinson B.H. Mutations in the X-linked E1a subunit of pyruvate dehydrogenase: exon skipping, insersion of dyplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex. - Am.J.Hum. Genet., 1995, v. 56, p. 558-569.