Figure 1From: Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi populationSequence analysis of PCR-amplified fragments of the HMGCL gene of patients and controls. A: The arrow indicates a heterozygous R41Q (122 G>A) mutation in a carrier of 3HMG; B: The position of the arrow indicates a homozygous F305fs (-2) (-TT) mutation in an affected 3HMG patient and C: The arrow indicates a homozygous IVS6+1G>A mutation in an affected 3HMG patient.Back to article page