Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening investigation of the effect of the mutant allele 2012
Heterozygosity-for-an-in-frame-deletion-causes-glutaryl-CoA-dehydrogenase-deficiency-in-a-patient-detected-by-newborn-screening-investigation-of-the-effect-of-the-mutant-allele2012...