HMGCLHMG-CoA Lyase (deficiency)
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HMGCLD is relatively common in the Saudi population (5), in which a novel variant, c.122G>A, leading to substitution of glutamine for arginine at position 41 (HMGCL:p.R41Q), has been described (6).
We developed and validated independent real-time PCR assays, using LCGreen I for ASLp.Q354STOP and for HMGCL:p.R41Q.
Melting curve analysis of relatively short amplicons in the presence of LCGreen I was used to genotype ASLp.Q354STOP and HMGCL: p.R41Q.