Associated Papers
The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency.
Cardoso ML et al.
Molecular Genetics and Metabolism, 2004
Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.
Mitchell GA et al.
Prenatal Diagnosis, 1995
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